98 results on '"Alkuraya, Fowzan"'
Search Results
2. Abstract 15842: Interplay of Genomic and Conventional Risk for Cardiometabolic Disease in Saudi Arabia
3. A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
4. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
5. Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation
6. A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin
7. Elsahy–Waters syndrome is caused by biallelic mutations in CDH11
8. Molecular and clinical spectra of FBXL4 deficiency
9. Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity
10. A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder
11. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
12. Reply to “an extremely severe phenotype due to WDR81 nonsense mutations”
13. Congenital disorders of glycosylation: The Saudi experience
14. Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI)
15. Confirming the candidacy of THOC6 in the etiology of intellectual disability
16. Novel copy number variants and major limb reduction malformation: Report of three cases
17. Crisponi/CISS1 syndrome: A case series
18. ADAT3-related intellectual disability: Further delineation of the phenotype
19. Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy
20. Report of a case of Raine syndrome and literature review
21. Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies
22. Identification of a novel MKS locus defined by TMEM107 mutation
23. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B
24. Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
25. A novel APC mutation defines a second locus for Cenani–Lenz syndrome
26. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
27. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
28. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
29. Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?
30. ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)
31. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism
32. Study of Mendelian forms of Crohnʼs disease in Saudi Arabia reveals novel risk loci and alleles
33. METTL23, a transcriptional partner of GABPA, is essential for human cognition
34. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome
35. Variable phenotypic expression of COG6 mutations
36. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum
37. A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation
38. NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
39. Ciliary Genes TBC1D32/C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX
40. Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3
41. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies
42. The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18
43. No evidence for locus heterogeneity in Knobloch syndrome
44. No evidence for rare pathological SIAE coding variants in patients with vitiligo
45. A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency
46. WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype
47. Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
48. Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36
49. Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data
50. The syndrome of deafness-dystonia: Clinical and genetic heterogeneity
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