230 results on '"Khayat, Morad"'
Search Results
2. Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality
3. The distribution of regions of homozygosity (ROH) among consanguineous populations - implications for a routine genetic counseling service
4. Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene
5. Homozygote loss-of-function variants in the human COCH gene underlie hearing loss
6. Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally
7. The effect of a prior e‐learning tool on genetic counseling outcomes in diverse ethnic couples with abnormal Down syndrome screening tests: A randomized controlled trial.
8. The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome
9. Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
10. Genetics of hearing loss in the Arab population of Northern Israel
11. Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature
12. Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature
13. A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm
14. Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies
15. Potential di‐genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex
16. Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis
17. A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay
18. A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia
19. Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome
20. TBCK-related intellectual disability syndrome: Case study of two patients
21. A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
22. Concomitant variants in NF1 , LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor
23. Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome
24. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
25. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p
26. Long-Term Outcome of Patients with TPO Mutations
27. The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes
28. Acral peeling in Nagashima type palmo‐plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion
29. A homozygous variant in CHMP3is associated with complex hereditary spastic paraplegia
30. Further Insight Into the Phenotype Associated With a Mutation in the ORC6 Gene, Causing Meier–Gorlin Syndrome 3
31. Supplementary Material 1 - Supplemental material for An Update on the Cutaneous Manifestations of Darier Disease
32. Supplementary Material 2 - Supplemental material for An Update on the Cutaneous Manifestations of Darier Disease
33. Novel Mutation in TSPAN12 Leads to Autosomal Recessive Inheritance of Congenital Vitreoretinal Disease With Intra-Familial Phenotypic Variability
34. Prolidase deficiency: it looks like systemic lupus erythematosus but it is not
35. Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.
36. An Update on the Cutaneous Manifestations of Darier Disease
37. A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1)
38. Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern
39. Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome.
40. Acral peeling in Nagashima type palmo‐plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
41. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
42. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
43. Homozygote loss-of-function variants in the human COCH gene underlie hearing loss
44. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness geneATOH1
45. Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally
46. The yield of chromosomal microarray testing for cases of abnormal fetal head circumference
47. High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel
48. Cockayne Syndrome Type II in a Druze Isolate in Northern Israel in Association With an Insertion Mutation in ERCC6
49. Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population
50. A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement
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