131 results on '"AlAbdi, Lama"'
Search Results
2. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
3. Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population
4. Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
5. Clinical utility of polygenic scores for cardiometabolic disease in Arabs
6. Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
7. Cone dystrophy associated with autoimmune polyglandular syndrome type 1
8. Arab founder variants: Contributions to clinical genomics and precision medicine
9. Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities
10. KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon
11. PMEL is mutated in oculocutaneous albinism
12. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
13. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
14. Residual risk for additional recessive diseases in consanguineous couples
15. Abstract 15842: Interplay of Genomic and Conventional Risk for Cardiometabolic Disease in Saudi Arabia
16. Oct4-Mediated Inhibition of Lsd1 Activity Promotes the Active and Primed State of Pluripotency Enhancers
17. A founder variant expands the phenotype of WNT7B‐related PDAC syndrome
18. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
19. Lethal variants in humans: lessons learned from a large molecular autopsy cohort
20. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
21. The transcription factor Vezf1 represses the expression of the antiangiogenic factor Cited2 in endothelial cells
22. Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant
23. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
24. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
25. P102: KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon
26. KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon
27. Homozygous truncating variant inMAN2A2causes a novel congenital disorder of glycosylation with neurological involvement
28. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
29. PMEL is mutated in oculocutaneous albinism
30. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
31. Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.
32. Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
33. Misregulation of the expression and activity of DNA methyltransferases in cancer
34. Additional file 2 of Lethal variants in humans: lessons learned from a large molecular autopsy cohort
35. WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium
36. Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination
37. Homozygous truncating variant in MAN2A2causes a novel congenital disorder of glycosylation with neurological involvement
38. Brain monoamine vesicular transport disease caused by homozygous SLC18A2variants: A study in 42 affected individuals
39. Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update
40. The acute myeloid leukemia variant DNMT3A Arg882His is a DNMT3B-like enzyme
41. Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits
42. MOLECULAR MECHANISMS THAT GOVERN STEM CELL DIFFERENTIATION AND THEIR IMPLICATIONS IN CANCER
43. The Acute Myeloid Leukemia variant DNMT3A Arg882His is a DNMT3B-like enzyme
44. Oct4-mediated inhibition of Lsd1 activity promotes the active and primed state of pluripotency enhancers
45. Dnmt3b Methylates DNA by a Noncooperative Mechanism, and Its Activity Is Unaffected by Manipulations at the Predicted Dimer Interface
46. An epigenetic switch regulatesde novoDNA methylation at a subset of pluripotency gene enhancers during embryonic stem cell differentiation
47. An epigenetic switch regulates de novo DNA methylation at pluripotency gene enhancers
48. Dnmt3b Methylates DNA by a Noncooperative Mechanism, and Its Activity Is Unaffected by Manipulations at the Predicted Dimer Interface.
49. Biallelic variation in the choline and ethanolamine transporter FLVCR1underlies a severe developmental disorder spectrum
50. An epigenetic switch regulates de novo DNA methylation at a subset of pluripotency gene enhancers during embryonic stem cell differentiation.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.