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Comparison of a New In-House and Three Published HLA-B*15:02 Screening Methods for Prevention of Carbamazepine-Induced Severe Drug ReactionsMutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder.Beta-synuclein modulates alpha-synuclein neurotoxicity by reducing alpha-synuclein protein expression.Familial dementia with Lewy bodies with an atypical clinical presentation.Association of ABO Blood Group Phenotype and Allele Frequency with Chikungunya FeverFamilial transmission of the FMR1 CGG repeat.A genome wide pattern of population structure and admixture in peninsular Malaysia Malays.Maternal Age-Specific Rates for Trisomy 21 and Common Autosomal Trisomies in Fetuses from a Single Diagnostic Center in Thailand.HLA-B*15:21 and carbamazepine-induced Stevens-Johnson syndrome: pooled-data and in silico analysisUnique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP HaplotypeScreening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities.Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature.Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature.Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.A new method for FMR1 gene methylation screening by multiplex methylation-specific real-time polymerase chain reaction.No association of Val158Met variant in the COMT gene with autism spectrum disorder in Thai children.Clinical abnormalities, intervention program, and school attendance of Down syndrome children in southern Thailand.Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats.Comparative studies of the CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene.A new structured interview for children with autism spectrum disorder based on the DSM-IV.Polymorphism of FXR1 showing lack of association with autism.Whole-exome sequencing identifies a novel heterozygous missense variant of the EN2 gene in two unrelated patients with autism spectrum disorder.Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder.Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital.Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families.Molecular screening for fragile X syndrome in Thailand.Haplotype analysis at the FRAXA locus in Thai subjects.Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder.Significant Changes in Plasma Alpha-Synuclein and Beta-Synuclein Levels in Male Children with Autism Spectrum Disorder.De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardationPrenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalisPossible founder effects for FRAXE allelesNovel Compound Heterozygous Mutations in the Gene in Two Siblings With Autism and Intellectual DisabilityUnilateral macroorchidism in fragile X syndrome
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6603353665
P31
P496
0000-0001-5022-5361