295 results on '"Lai, Poh San"'
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2. Reducing the Diagnostic Odyssey for Patients with Neuromuscular Disorders (NMDs)
3. A clinical approach to diagnosis and management of mitochondrial myopathies
4. Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
5. Spinal Muscular Atrophy: Evaluation of New Emerging Methods for Carrier Screening and Diagnosis
6. Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
7. J’Accuse….. Or The Plight of pro-bono Volunteer Scientists in Academic Publishing
8. Genetic variation in the oxytocin system and its link to social motivation in human infants
9. A clinical approach to diagnosis and management of mitochondrial myopathies
10. Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients
11. Effects of Mindfulness-Based Stress Reduction on Affect Dynamics: a Randomized Controlled Trial
12. Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene
13. Effects of Mindfulness-Based Stress Reduction on Psychological Symptoms and Telomere Length: A Randomized Active-Controlled Trial
14. Blending oxytocin and dopamine with everyday creativity
15. Delay discounting, genetic sensitivity, and leukocyte telomere length
16. PYCR1 Levels Track with Premature and Chronological Skin Aging
17. Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
18. Successful aging, cognitive function, socioeconomic status, and leukocyte telomere length
19. The role of the Oxytocin-Neurophysin I gene in contributing to human personality traits promoting sociality
20. Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2
21. Genetics in Ischemic Stroke: Current Perspectives and Future Directions.
22. NRG1 variant effects in patients with Hirschsprung disease
23. Genetic Variation in the Maternal Oxytocin System Affects Cortisol Responsiveness to Breastfeeding in Infants and Mothers
24. Spinal muscular atrophy carriers with two SMN1 copies
25. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA
26. SMA mutations in SMN Tudor and C-terminal domains destabilize the protein
27. ADP ribosyl-cyclases (CD38/CD157), social skills and friendship
28. Correction to: Association among dispositional mindfulness, self-compassion, and leukocyte telomere length in Chinese adults
29. The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine
30. P220: A de novo Xq13.2-13.3 duplication associated with non-syndromic intellectual disability
31. Expanding the genetic causes of small‐fiber neuropathy:SCNgenes and beyond
32. Association among dispositional mindfulness, self-compassion, and leukocyte telomere length in Chinese adults
33. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients
34. Vulnerability and the Ethics of Human Germline Genome Editing
35. Expanding the genetic causes of small‐fiber neuropathy: SCN genes and beyond.
36. Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients
37. Investigating the Genetic Etiology of Disease in a Patient with Aplastic Anemia
38. The contributions of oxytocin and vasopressin pathway genes to human behavior
39. Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients
40. Novel Autoantibodies in Idiopathic Small Fiber Neuropathy
41. Ethical considerations of preconception and prenatal gene modification in the embryo and fetus
42. Germline genome modification through novel political, ethical, and social lenses
43. Modeling the Genetics of Social Cognition in the Laboratory
44. Dimeric gold nanoparticle assembly for detection and discrimination of single nucleotide mutation in Duchenne muscular dystrophy
45. Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR
46. Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis
47. Modeling the Genetics of Social Cognition in the Laboratory
48. Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms
49. Identification and characterization of a novel human dysferlin transcript: dysferlin_v1
50. The orphan nuclear receptorNR0B2could be a novel susceptibility locus associated with microsatellite‐stable,APCmutation‐negative early‐onset colorectal carcinomas with metabolic manifestation
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