Abstracts
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Annals of Translational Medicine
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Part 1: Plenary
AB001. The path to genomic medicine
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AB002. The rare and undiagnosed diseases diagnostic service
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AB003. The path towards translational medicine for common reproductive diseases
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AB004. Genetic testing for individuals with developmental disabilities and congenital anomalies: choosing between chromosomes, DNA microarrays, and next generation sequencing platforms
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AB005. Genomics on site of detection of malaria
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AB006. Personalized and precision medicine: are we there yet?
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AB007. Genomic medicine: impact of rare disease research on medicine and health care
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Part 2: Symposium
AB008. SEPARATION and identification glycoprotein in human Fragile X syndrome serum
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AB009. Targeting the stratification of neuroblastoma: clinical and biological challenges
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AB010. Newborn screening worldwide: when and where is molecular testing a part of the screening protocol
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AB011. Preimplantation genetic diagnosis—experience from Hong Kong
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AB012. Applying whole exome sequencing (WES) to solve undiagnosed diseases in children in Hong Kong
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AB013. Long-range modulation of PAG1 expression by 8q21 allergy risk variants
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AB014. Expanding newborn screening and the initiation of regional follow-up in the Philippines
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(06 September 2015)
AB015. Very early for pompe disease contribute to better outcomes: 7-year cohort study in Taiwan
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AB016. Developing diagnostic strategy of multiple congenital anomalies in Indonesia
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AB017. The extended newborn screening by tandem mass in Taiwan—results from two national newborn screening centers: Taipei Institute of Pathology & Chinese Foundation of Health
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AB018. Revisited later-onset cardiac type Fabry disease—cardiac damages progressed in silence—experiences from an extremely high prevalent area, Taiwan
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AB019. Osteogenesis imperfecta 2015: new genes, new treatments—an Asia pacific perspective
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AB020. What is advance in molecular diagnosis for 46,XY and 46,XX testicular disorder of sex development?
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AB021. Epigenetics and disease—lessons from imprinting disorders
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AB022. Harnessing big data to transform clinical care of cardiovascular diseases
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AB023. Problem in the prevention and control of thalassaemia in Asia
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AB024. Chromosome microarray analysis (CMA) for the diagnosis of children with developmental delay and multiple congenital anomalies in Singapore
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AB025. Genome technology applications for perinatal diagnosis and fetal medicine in China
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AB026. SCN1A mutational analysis in 20 Vietnamese children with Dravet syndrome
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(06 September 2015)
AB027. Developing capacity for variant data sharing in low and middle income countries: HVP’s Global Globin 2020 Challenge
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AB028. Identifying the functional role of VEZT gene for endometriosis risk
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AB029. Next generation sequencing analysis in hereditary muscle diseases
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AB030. The evolving role of genetic counseling
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AB031. Spectrum of IEMs in Vietnamese patients: data from 10 years of selected screening and diagnosis
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(06 September 2015)
AB032. Mutation spectrum in the dystrophin gene disclosed by multiplex ligation-dependent probe amplification in 181 Vietnamese Duchenne/Becker muscular dystrophy patients
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AB033. Preimplantation genetic diagnosis of spinal muscular atrophy in Vietnam
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(06 September 2015)
AB034. Hemoglobinopathies in China and SEA: rapid targeted deep sequencing for molecular screening and clinical genotyping in subjects with hemoglobinopathies
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AB035. Thalassemia in Vietnam
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AB036. Analysis of human mitochondrial genome mutations of Vietnamese patients tentatively diagnosed with encephalomyopathy
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(06 September 2015)
AB037. Inhibition of extracellular signal-regulated kinase pathways by U0126 enhances osteogenic differentiation of bone marrow-derived multipotent mesenchymal stem cells via cross-talk with p38 pathway
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AB038. NGS-based diagnostics for genetic disorders—promises and pitfalls
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AB039. Thailand national plan for prevention and care of birth defects and disabilities
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(06 September 2015)
AB040. Biomarkers for Autism: where are we now and what will the future bring?
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AB041. Genetic diversity of organic and fatty acid disorders detectable in expanded newborn screening in Asian countries
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(06 September 2015)
AB042. Therapies for the bone in mucopolysaccharidoses
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AB043. Nanopore sequencing for genotyping Dengue virus
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AB044. Update in the management of thalassemia
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(06 September 2015)
AB045. Molecular markers for disease severity in beta thalassemia/Hb E disease
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(06 September 2015)
AB046. X-linked dilated cardiomyopathy: the dystrophinopathy in a Thai family
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(06 September 2015)
AB047. Acquired resistance to epidermal growth factor receptor tyrosine kinase inhibitors by the EGFR T790M mutation in a non-small cell lung cancer patient in Vietnam
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AB048. X-chromosomal SNPs variation in populations of Russia
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AB049. Aldehyde dehydrogenases: from cancer stem cells to inborn errors of metabolism
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AB050. Building population-specific reference genomes: a case study of Vietnamese reference genome
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AB051. Regulation of IL-2 production through ERK/NFATc3 signalling pathway by A20 in dendritic cells
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(06 September 2015)
AB052. The Human Variome Project (HVP) and the HVP ASEAN Node
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Part 3: Lunch symposium
AB053. Role of inflammation in the mucopolysaccharidoses & review of recent therapies
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AB054. Overview of multi-gene panels for hereditary cancer
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AB055. The new meaning of translational genomics & developing consensus on best practices for areas critical to enabling precision medicine
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(06 September 2015)
Part 4: Oral/poster
AB056. Establishing the procedure for detection of gr/gr deletions on the Y chromosome in Vietnamese infertile men
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AB057. Wilson disease in children clinical and laboratory manifestations
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AB058. Newborn screening in preterm babies at the Newborn Screening Center-National Institutes of Health, Manila: impact, implications, and outcomes on its first year of implementation
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AB059. The clinical profile and factors influencing loss to follow-up on the use of repeat otoacoustic emissions (OAE) and auditory brainstem response (ABR) among infants with refer results on newborn hearing screening at Cebu Doctors’ University Hospital
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AB060. A4164G alteration of mitochondrial MT-ND1 gene in a Vietnamese patient group with colorectal cancer
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AB061. Screening of thalassemia in the Philippines
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AB062. Identification of disease susceptibility genes in Filipino SSPE patients
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(06 September 2015)
AB063. Prevalence of thalassemias and hemoglobinopathies detected via high performance liquid chromatography in Filipinos
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(06 September 2015)
AB064. Autosomal recessive diseases caused by a rare mechanism: uniparental disomy
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(06 September 2015)
AB065. MDM2 SNP309 polymorphism and lung cancer risk
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(06 September 2015)
AB066. Pseudohomozygous familial hypercholesterolemia has better outcome than homozygous familial hypercholesterolemia
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(06 September 2015)
AB067. Glucose tetrasaccharide (Glc4) level in urine sample as a biomarker for Pompe patients
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(06 September 2015)
AB068. Association between MTHFR C677T and carotid intima medial thickness progression in post-ischemic stroke patient
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AB069. Effect of osteogenesis imperfecta on children and their families
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AB070. Mutations of SRD5A2 in Vietnamese patients: phenotype and genotype
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(06 September 2015)
AB071. Mutations of AR gene in Vietnamese patients: genotype and phenotype
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(06 September 2015)
AB072. Novel mutation in the hepatocyte nuclear factor 1b/maturity-onset diabetes of the young type 5 gene—unreported Vietnamese case
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(06 September 2015)
AB073. Mutations in the type II 3β-hydroxysteroid dehydrogenase gene caused primary adrenal insufficiency & 46,XY disorders of sex development
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AB074. Registry of congenital adrenal hyperplasia at the north pediatric referral centre of Vietnam during 15 years
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(06 September 2015)
AB075. Mutations of WT1 gene caused 46,XY disorder of sex development and Wilms’ tumor
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(06 September 2015)
AB076. Congenital hyperinsulinism due to mutation of HNF4A: a case report
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(06 September 2015)
AB077. Clinical symptoms, molecular genetics, genotype and phenotype correlations of children with congenital hyperinsulinism
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(06 September 2015)
AB078. Novel mutation of ABCC8 and KCNJ11 of children with congenital hyperinsulinism
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(06 September 2015)
AB079. Phenotype variation in untreated 46,XX congenital adrenal hyperplasia
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(06 September 2015)
AB080. Genetic findings provide insight of biliary atresia patient complexity
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(06 September 2015)
AB081. Acute encephalopathy in Dravet syndrome: two case reports and discussion of risk factors
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(06 September 2015)
AB082. Phenotype and genotype of Vietnamese patients with mucopolysaccharidosis II: first case series report
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(06 September 2015)
AB083. A cause of cholestasis and hepatic failure in children: neonatal intrahepatic cholestasis cause by citrin deficiency
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(06 September 2015)
AB084. Cause of death and clinical characteristics of 34 mortality patients with mucopolysaccharidosis II in Taiwan, 1995-2012
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(06 September 2015)
AB085. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance
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(06 September 2015)
AB086. Chromosomal microarray analysis—detection of both duplication and deletion in patients with multiple congenital anomalies and/or developmental delay
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(06 September 2015)
AB087. Most common SLC25A13 mutation in 695 Vietnamese patients with NICCD
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(06 September 2015)
AB088. Mutation analysis of 16 Vietnamses Wilson patients
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(06 September 2015)
AB089. Postnatal and prenatal diagnosis for neonatal intrahepatic cholestasis caused by citrin deficiency
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(06 September 2015)
AB090. Molecular diagnosis outcome of Duchenne muscular dystrophy gene after 10 years in Vietnam
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(06 September 2015)
AB091. Analysis of LA2 as a functional candidate gene for Emery Dreifuss muscular dystrophy and dilated cardiomyopathy
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(06 September 2015)
AB092. Regional IBD analysis (RIA): a new method for linkage analysis in extended pedigrees using genome-wide SNP data
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(06 September 2015)
AB093. A case of exogenous C5-acylcarnitine giving rise to a false positive result in newborn screening (NBS)
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(06 September 2015)
AB094. Efficacy of combined preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) cycles—early results
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(06 September 2015)
AB095. Comparison pregnancy of day 6 fresh blastocyst and day 5 frozen-thawed blastocyst transfer following array comparative genome hybridization (aCGH)
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(06 September 2015)
AB096. Pharmaco-genetic guided personalized medicine: discovery of a maturity onset diabetes of the young (MODY2) novel mutation [S441W in glucose kinase (GCK) gene] by next generation sequencing (NGS)
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(06 September 2015)
AB097. Clinical and molecular characterization of patients with 6p25 deletion syndrome
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(06 September 2015)
AB098. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene in Taiwanese population
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(06 September 2015)
AB099. Beta ketothiolase deficiency: phenotype and genotype in Vietnam population
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AB100. Phenotypes of primary hyperlipidemia in a Vietnamese referral center
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AB101. Neonatal form of Isovaleric acidemia in Vietnamese patients: clinical history and outcomes
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AB102. Vietnamese patient with Tyrosinemia type 1: a case report
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AB103. Phenotype and genotype of urea cycle defect in a Vietnamese referral center
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(06 September 2015)
AB104. Glucose-6 phospate dehydrogenase deficiency among mongolian neonates
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(06 September 2015)
AB105. Novel large mitochondrial DNA deletions in pediatric patients with clinical features of mitochondrial disorders
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AB106. The role of apolipoprotein E polymorphism in dyslipidemic obese adolescents who received the intervention of physical exercise and National Cholesterol Education Program step II
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AB107. Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country
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(06 September 2015)
AB108. The appliance of Bio-Plex immunoassay using dried blood spots for mucopolysaccharidosis IVA newborn screening in Taiwan—a pilot study
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AB109. Noninvasive prenatal testing (NIPT): differences in testing indications between the US and Southeast Asia
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AB110. Novel alteration of mitochondrial tRNATrp in a group of Vietnamese breast cancer patients
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(06 September 2015)
AB111. HBB: c. -78A>G/nt-28(A>G) associated with Cd 26(A-G) HbE, beta thalassemia variant causes thalassemia intermedia
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AB112. Detection of human sperm DNA fragmentation by alkaline comet and neutral comet improved by research center for genetics and reproductive health (CGRH)
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AB113. The first genetic study on congenital choledochal dilatation (CCD) implicates extracellular matrix proteins
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(06 September 2015)
AB114. Change in bone mineral density of patients with osteogenesis imperfecta after 6 months of pamidronate therapy in the philippine general hospital: a retrospective review
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AB115. Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features
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AB116. Germline mutations of Syk gene associated with breast cancer pathogenesis
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(06 September 2015)
AB117. An exploration of Australasian genetic counsellors’ attitudes towards compassion fatigue, mindfulness and genetic counselling
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(06 September 2015)
AB118. Validation of next generation sequencing by Sanger sequencing
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(06 September 2015)
AB119. Induction of suppressor of cytokine signaling-3 in FLT3-ITD positive MV4-11 acute myeloid leukemia cells in response to 5-Azacytidine and Trichostatin A
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AB120. Correlation of genotype with biochemical profile in patients with Glutaric Acidemia type I: a study from India
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(06 September 2015)
AB121. NAT2 sequence polymorphisms and acetylation profiles in Indians
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(06 September 2015)
AB122. Profiling the serine threonine kinase phosphorylation of TGF-β1 stimulated fibroblast using peptide microarray
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(06 September 2015)
AB123. Carrier screening and prenatal diagnosis for α- and β-thalassemia in pregnancies at risk in National Hospital of Pediatrics, Vietnam
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(06 September 2015)
AB124. Mucolipidosis type II: clinical features and laboratories
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(06 September 2015)
AB125. Neonatal diabetes mellitus due to insulin gene mutation
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(06 September 2015)
AB126. Enzyme replacement therapy in patient with mucopolysaccharidosis type I: a case report
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(06 September 2015)
AB127. Enzyme replacement therapy in patient with mucopolysaccharidosis type II: a case report
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(06 September 2015)
AB128. Neonatal diabetes mellitus: genotype, phenotype and outcome
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(06 September 2015)
AB129. Osteogenesis imperfecta: clinical features and bisphosphonate treatment outcome
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(06 September 2015)
AB130. Pseudoaldosteronism due to mutation of SCNN1A gene: a case report
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(06 September 2015)
AB131. Genotype, phenotype of transient neonatal diabetes mellitus
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(06 September 2015)
AB132. Neonatal diabetes in Wolcott-Rallison syndrome: a case report
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(06 September 2015)
AB133. SmartLabs—a solution to healthcare
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(06 September 2015)
AB134. Trimethylaminuria: report of two cases in Ramathibodi hospital
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(06 September 2015)
AB135. The numerical chromosomal abnormalities in prenatal screening and diagnosis by QF-PCR
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(06 September 2015)
AB136. Arthrogryposis, renal dysfunction, cholestasis (ARC) syndrome
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB137. Preimplantation genetic diagnosis for rare monogenic disorder: a lesson from pantothenate kinase-associated neurodegeneration
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB138. Next-generation sequencing as a tool for molecular diagnosis of hypertrophic and dilated cardiomyopathies in Thai patients
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB139. The role of CD44 in the osteoblastic differentiation from mesenchymal stem cells
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB140. Ten years experiences of diagnosis spinal muscular atrophy using molecular techniques
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB141. Multiplex PCR-based procedure establishment for simultaneous detection of two mutations occurring most frequently in FMS-like tyrosine kinase-3
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB142. Clinical, biochemical and growth hormone receptor polymorphism profile of children with short stature presenting to a tertiary care centre
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB143. Berardinelli-Seip congenital lipodystrophy and its diagnostic implications
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB144. Study on the relationship between MYCN status and other prognostic factors in 41 patients with neuroblastoma
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB145. Comparative metabolomic analyses in term and preterm Malaysian infants
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB146. CD38 gene expression and social phenotypes: blood genomics as a proxy for CNS function
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB147. Treatment-focused genetic testing (TFGT)—is it too soon for Malaysia?
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB148. The introduction of a contingent model of first trimester screening using non-invasive prenatal testing
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB149. Long-range PCR sequencing as a novel approach in genetic—analysis of MYH3: a preliminary result
Annals of Translational Medicine
2015;
3
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:AB149
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(06 September 2015)
AB150. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB151. CHD7 variants identified by next-generation sequencing
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB152. Inborn errors of metabolism spectrum in symptomatic children of north India: 5-year prospective data from tertiary care centre
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB153. Incidence of IEM from perspective of new born screening at a tertiary health care center in India
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB154. Molecular characterization of Filipino patients with variant galactosemia
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB155. Clinical presentation and its relationship with chromosomal abnormalities in Turner syndrome
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB156. Clinical and laboratory characteristics of Prader-Willi syndrome
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB157. Evaluation of thalassemia screening program by using red blood count in pregnant women at Hung Vuong Hospital, Ho Chi Minh City, Vietnam
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB158. Report of a Gardner’s syndrome case with an APC gene mutation
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB159. Endocrine disrupting chemicals: toxicological risk assessment in vivo and in vitro models
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB160. Fuminal hepatic failure in Wilson disease
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB161. High resolution melting analysis of buccal DNA revealed a significant association between UGT1A1 c.211G>A and neonatal hyperbilirubinemia development in Malay population
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB162. Genes variation in three families of Vietnamese dioxin victim
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB163. Microsatellite markers for preimplantation genetic diagnosis in Vietnamese DMD and hemophilia: a female carriers
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB164. Methylmalonic acidemia/propionic acidemia in Taiwan
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB165. Extended follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB166. Replicative genetic association analysis reveals genetic markers of schizophrenia and Alzheimer’s disease in Russians and Kazakhs and demonstrates overlapping associations pattern between two diseases
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB167. Congenital adrenal hyperplasia (CAH) caused by mutations in the CYP21A2 and CYP11B1 gene of Vietnamese children patients
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB168. Novel DYM compound heterozygous mutations in a Malaysian boy with Dyggve-Melchior-Clausen syndrome
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB169. Engaging the genetic counsellor in the implementation of precision oncology in Singapore
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB170. Loss of heterozygosity in child with multiple congenital anomaly
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB171. RNA alternative splicing modulator can effectively increase lymphoblast enzyme activity in patients with cardiac fabry disease caused by IVS4+919G >A mutation
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB172. High-throughput and cost-effective newborn screening method for female with fabry disease by DNA mass spectrometry in Taiwan
Annals of Translational Medicine
2015;
3
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(06 September 2015)
AB173. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in a folate deficiency area where has inordinately high homocystinuria prevalence
Annals of Translational Medicine
2015;
3
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:AB173
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(06 September 2015)
AB174. Genetic counseling in the couple with compound heterozygous carrier based on the result of mutation effect analysis on cystic fibrosis transmembrane conductance regulator (CFTR) protein
Annals of Translational Medicine
2015;
3
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:AB174
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(06 September 2015)
Disclosure:
The supplement “11th Asia Pacific Conference on Human Genetics” was commissioned by the editorial office, Annals of Translational Medicine without any sponsorship or funding.