137 results on '"Lai, Poh San"'
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2. A clinical approach to diagnosis and management of mitochondrial myopathies
3. Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
4. J’Accuse….. Or The Plight of pro-bono Volunteer Scientists in Academic Publishing
5. Delay discounting, genetic sensitivity, and leukocyte telomere length
6. A clinical approach to diagnosis and management of mitochondrial myopathies
7. Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients
8. Blending oxytocin and dopamine with everyday creativity
9. Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
10. NRG1 variant effects in patients with Hirschsprung disease
11. Correction to: Association among dispositional mindfulness, self-compassion, and leukocyte telomere length in Chinese adults
12. The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine
13. Genetics in Ischemic Stroke: Current Perspectives and Future Directions.
14. P220: A de novo Xq13.2-13.3 duplication associated with non-syndromic intellectual disability
15. Association among dispositional mindfulness, self-compassion, and leukocyte telomere length in Chinese adults
16. Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients
17. Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients
18. Ethical considerations of preconception and prenatal gene modification in the embryo and fetus
19. Dimeric gold nanoparticle assembly for detection and discrimination of single nucleotide mutation in Duchenne muscular dystrophy
20. Germline genome modification through novel political, ethical, and social lenses
21. Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR
22. Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms
23. Identification and characterization of a novel human dysferlin transcript: dysferlin_v1
24. Ethnic variations of a retinoblastoma susceptibility gene (RB1) polymorphism in eight Asian populations
25. Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping
26. Mapping Human Genetic Diversity in Asia
27. SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA
28. NRG1 variant effects in patients with Hirschsprung disease
29. Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.
30. AB109. Novel constitutional and somatic RB1 mutations underlying retinal cancers in addition to TNFα, KIF13A and MGMT alterations
31. AB132. The role of oxytocin-neurophysin I in contributing to human personality traits and plasma immunogenic oxytocin levels
32. Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling
33. AB040. Biomarkers for Autism: where are we now and what will the future bring?
34. AB038. NGS-based diagnostics for genetic disorders—promises and pitfalls
35. Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
36. A comprehensive method to scan for point mutations of the glucose 6 phosphate dehydrogenase gene
37. Comparison of insertion rate of L1 retroposon into intron 30 of the neurofibromatosis type 1 gene in seven Asian and Pacific populations
38. Genetic variation in CD38 and breastfeeding experience interact to impact infants’ attention to social eye cues
39. Association between the dopamine D4 receptor gene exon III variable number of tandem repeats and political attitudes in female Han Chinese
40. Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials
41. U-Shaped Relation between Plasma Oxytocin Levels and Behavior in the Trust Game
42. A Prospective Study in the Rational Design of Efficient Antisense Oligonucleotides for Exon Skipping in the DMD Gene
43. Dopaminergic Polymorphisms Associated with Time-on-Task Declines and Fatigue in the Psychomotor Vigilance Test
44. High incidence of allelic loss at 16q12.2 region spanning RB2/p130 gene in retinoblastoma
45. Fugu rubripes and human survival motor neuron genes: Structural and functional similarities in comparative genome studies
46. Dynamics of Co-Transcriptional Pre-mRNA Folding Influences the Induction of Dystrophin Exon Skipping by Antisense Oligonucleotides
47. Molecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions
48. Automated DNA Mutation Detection Using Universal Conditions Direct Sequencing: Application to Ten Muscular Dystrophy Genes
49. Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA.
50. Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.
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