181 results on '"Lai, Poh San"'
Search Results
2. A clinical approach to diagnosis and management of mitochondrial myopathies
3. Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
4. Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
5. J’Accuse….. Or The Plight of pro-bono Volunteer Scientists in Academic Publishing
6. Genetic variation in the oxytocin system and its link to social motivation in human infants
7. Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene
8. Effects of Mindfulness-Based Stress Reduction on Affect Dynamics: a Randomized Controlled Trial
9. Effects of Mindfulness-Based Stress Reduction on Psychological Symptoms and Telomere Length: A Randomized Active-Controlled Trial
10. Delay discounting, genetic sensitivity, and leukocyte telomere length
11. Blending oxytocin and dopamine with everyday creativity
12. Successful aging, cognitive function, socioeconomic status, and leukocyte telomere length
13. The role of the Oxytocin-Neurophysin I gene in contributing to human personality traits promoting sociality
14. Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2
15. Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
16. Spinal muscular atrophy carriers with two SMN1 copies
17. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA
18. NRG1 variant effects in patients with Hirschsprung disease
19. SMA mutations in SMN Tudor and C-terminal domains destabilize the protein
20. ADP ribosyl-cyclases (CD38/CD157), social skills and friendship
21. Correction to: Association among dispositional mindfulness, self-compassion, and leukocyte telomere length in Chinese adults
22. The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine
23. Genetics in Ischemic Stroke: Current Perspectives and Future Directions.
24. Genetic Variation in the Maternal Oxytocin System Affects Cortisol Responsiveness to Breastfeeding in Infants and Mothers
25. Association among dispositional mindfulness, self-compassion, and leukocyte telomere length in Chinese adults
26. P220: A de novo Xq13.2-13.3 duplication associated with non-syndromic intellectual disability
27. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients
28. Expanding the genetic causes of small‐fiber neuropathy: SCN genes and beyond.
29. The contributions of oxytocin and vasopressin pathway genes to human behavior
30. Dimeric gold nanoparticle assembly for detection and discrimination of single nucleotide mutation in Duchenne muscular dystrophy
31. Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms
32. Identification and characterization of a novel human dysferlin transcript: dysferlin_v1
33. Ethnic variations of a retinoblastoma susceptibility gene (RB1) polymorphism in eight Asian populations
34. Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping
35. Paramyotonia congenita: From clinical diagnosis to in silico protein modeling analysis
36. Novel Autoantibodies in Idiopathic Small Fiber Neuropathy.
37. Mapping Human Genetic Diversity in Asia
38. Ethical considerations of preconception and prenatal gene modification in the embryo and fetus.
39. Germline genome modification through novel political, ethical, and social lenses.
40. Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis.
41. 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.
42. Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.
43. Design of Split Proximity Circuit as a Plug-and-Play Translator for Point Mutation Discrimination.
44. Training in clinical genetics and genetic counseling in Asia.
45. Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy.
46. Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia.
47. Development of clinical genetics in Asia.
48. Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.
49. Gold nanostructures for the multiplex detection of glucose-6-phosphate dehydrogenase gene mutations.
50. Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials.
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