295 results on '"Lai, Poh San"'
Search Results
52. Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping
53. Paramyotonia congenita: From clinical diagnosis to in silico protein modeling analysis
54. Novel Autoantibodies in Idiopathic Small Fiber Neuropathy.
55. Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management
56. Design of Split Proximity Circuit as a Plug-and-Play Translator for Point Mutation Discrimination
57. Mapping Human Genetic Diversity in Asia
58. SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA
59. Resolving the Diagnostic Odyssey of a Patient with an Undefined Neuromuscular Disorder Using Massively Parallel Sequencing Approaches
60. NRG1 variant effects in patients with Hirschsprung disease
61. The Creative Mind: Blending Oxytocinergic, Dopaminergic and Personality
62. Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
63. Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia
64. Training in clinical genetics and genetic counseling in Asia
65. Development of clinical genetics in Asia
66. The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite‐stable, APC mutation‐negative early‐onset colorectal carcinomas with metabolic manifestation.
67. Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.
68. Malignant Hyperthermia and Ryanodine Receptor Type 1 Gene (RyR1) Mutation in a Family in Singapore
69. Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management
70. AB109. Novel constitutional and somatic RB1 mutations underlying retinal cancers in addition to TNFα, KIF13A and MGMT alterations
71. AB132. The role of oxytocin-neurophysin I in contributing to human personality traits and plasma immunogenic oxytocin levels
72. Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling
73. ADP ribosyl-cyclases ( CD38 / CD157 ), social skills and friendship
74. AB040. Biomarkers for Autism: where are we now and what will the future bring?
75. AB038. NGS-based diagnostics for genetic disorders—promises and pitfalls
76. Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
77. A comprehensive method to scan for point mutations of the glucose 6 phosphate dehydrogenase gene
78. Comparison of insertion rate of L1 retroposon into intron 30 of the neurofibromatosis type 1 gene in seven Asian and Pacific populations
79. Two new variants of G6PD deficiencies in Singapore
80. Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines
81. Genetic variation in CD38 and breastfeeding experience interact to impact infants’ attention to social eye cues
82. Association between the dopamine D4 receptor gene exon III variable number of tandem repeats and political attitudes in female Han Chinese
83. Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in southeast Asian countries
84. A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy
85. CD38 Gene Expression and Human Personality Traits: Inverse Association with Novelty Seeking
86. Gold nanostructures for the multiplex detection of glucose-6-phosphate dehydrogenase gene mutations
87. Genetics of Human Social Behaviour
88. Frontiers in Human Genetics
89. Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials
90. U-Shaped Relation between Plasma Oxytocin Levels and Behavior in the Trust Game
91. A Prospective Study in the Rational Design of Efficient Antisense Oligonucleotides for Exon Skipping in the DMD Gene
92. Dopaminergic Polymorphisms Associated with Time-on-Task Declines and Fatigue in the Psychomotor Vigilance Test
93. Introduction
94. Detection of hemi/homozygotes through heteroduplex formation in high-resolution melting analysis
95. EFFICIENT MINING OF HAPLOTYPE PATTERNS FOR LINKAGE DISEQUILIBRIUM MAPPING
96. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes
97. High incidence of allelic loss at 16q12.2 region spanning RB2/p130 gene in retinoblastoma
98. A Case of X-Linked Adrenal Hypoplasia Congenita, Central Precocious Puberty and Absence of the DAX-1 Gene: Implications for Pubertal Regulation
99. Myotoxicity of Lipid-Lowering Agents in a Teenager With MELAS Mutation
100. Fugu rubripes and human survival motor neuron genes: Structural and functional similarities in comparative genome studies
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