1,340 results on '"Alkuraya, Fowzan"'
Search Results
2. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
3. Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations
4. Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
5. Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
6. Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism
7. Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia
8. Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution
9. Primate-specific ZNF808 is essential for pancreatic development in humans
10. Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations
11. NanoRanger enables rapid single-base-pair resolution of genomic disorders
12. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
13. Surgical Outcomes of Retinal Detachment in Knobloch Syndrome
14. A founder DBR1 variant causes a lethal form of congenital ichthyosis
15. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
16. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
17. Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
18. Massive underrepresentation of Arabs in genomic studies of common disease
19. Clinical utility of polygenic scores for cardiometabolic disease in Arabs
20. Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
21. Cone dystrophy associated with autoimmune polyglandular syndrome type 1
22. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
23. The clinical utility of rapid exome sequencing in a consanguineous population
24. Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
25. Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant
26. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
27. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
28. Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities
29. PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis
30. KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon
31. Clinical and molecular features of four families with CLDN10-related HELIX syndrome
32. Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders
33. Influence of autozygosity on common disease risk across the phenotypic spectrum
34. CRISPR REGULATION
35. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
36. PMEL is mutated in oculocutaneous albinism
37. Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy
38. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
39. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
40. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
41. Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
42. Recurrent spontaneous oocyte activation causes female infertility
43. LEPREL1-related Giant Retinal Tear Detachments Mimic the Phenotype of Ocular Stickler Syndrome
44. Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
45. Functional studies in yeast confirm the pathogenicity of a new GINS3Meier–Gorlin syndrome variant.
46. Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant
47. Mitochondrial “dysmorphology” in variant classification
48. ASTL is mutated in female infertility
49. The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
50. Residual risk for additional recessive diseases in consanguineous couples
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