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. Spinal Muscular Atrophy: Evaluation of New Emerging Methods for Carrier Screening and Diagnosis
5. Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
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. Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene
10. Effects of Mindfulness-Based Stress Reduction on Affect Dynamics: a Randomized Controlled Trial
11. Effects of Mindfulness-Based Stress Reduction on Psychological Symptoms and Telomere Length: A Randomized Active-Controlled Trial
12. Delay discounting, genetic sensitivity, and leukocyte telomere length
13. A clinical approach to diagnosis and management of mitochondrial myopathies
14. Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients
15. Blending oxytocin and dopamine with everyday creativity
16. Successful aging, cognitive function, socioeconomic status, and leukocyte telomere length
17. The role of the Oxytocin-Neurophysin I gene in contributing to human personality traits promoting sociality
18. PYCR1 Levels Track with Premature and Chronological Skin Aging
19. Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2
20. Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
21. Spinal muscular atrophy carriers with two SMN1 copies
22. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA
23. NRG1 variant effects in patients with Hirschsprung disease
24. SMA mutations in SMN Tudor and C-terminal domains destabilize the protein
25. ADP ribosyl-cyclases (CD38/CD157), social skills and friendship
26. Correction to: Association among dispositional mindfulness, self-compassion, and leukocyte telomere length in Chinese adults
27. The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine
28. Genetics in Ischemic Stroke: Current Perspectives and Future Directions.
29. Genetic Variation in the Maternal Oxytocin System Affects Cortisol Responsiveness to Breastfeeding in Infants and Mothers
30. P220: A de novo Xq13.2-13.3 duplication associated with non-syndromic intellectual disability
31. Association among dispositional mindfulness, self-compassion, and leukocyte telomere length in Chinese adults
32. Expanding the genetic causes of small‐fiber neuropathy:SCNgenes and beyond
33. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients
34. Expanding the genetic causes of small‐fiber neuropathy: SCN genes and beyond.
35. Vulnerability and the Ethics of Human Germline Genome Editing
36. Investigating the Genetic Etiology of Disease in a Patient with Aplastic Anemia
37. The contributions of oxytocin and vasopressin pathway genes to human behavior
38. Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients
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. Dimeric gold nanoparticle assembly for detection and discrimination of single nucleotide mutation in Duchenne muscular dystrophy
43. Germline genome modification through novel political, ethical, and social lenses
44. Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR
45. Modeling the Genetics of Social Cognition in the Laboratory
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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