131 results on '"Otaify, Ghada A."'
Search Results
2. Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation
3. Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
4. Expansion of the phenotypic and mutational spectrum of Carpenter syndrome
5. Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
6. Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
7. 3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease
8. Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5)
9. Psoriasiform Skin Lesions and Dental Abnormalities.
10. Genomic and phenotypic delineation of congenital microcephaly
11. CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum
12. Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective
13. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
14. A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract
15. A novel variant inGNPNAT1gene causing a spondylo‐epi‐metaphyseal dysplasia resemblingPGM3—Desbuquois like dysplasia
16. Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
17. Molecular and Clinical Analysis of ALPL in a Cohort of Patients with Suspicion of Hypophosphatasia
18. Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum
19. Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations
20. Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly
21. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium
22. A novel variant in GNPNAT1 gene causing a spondylo‐epi‐metaphyseal dysplasia resembling PGM3—Desbuquois like dysplasia.
23. Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
24. 3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease
25. A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly
26. First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations
27. Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
28. Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
29. Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum
30. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
31. Mutaciones en FAM46A en un paciente con osteogénesis imperfecta
32. Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate
33. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion
34. Expanding the phenome and variome of skeletal dysplasia
35. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
36. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
37. Biallelic truncating variants in MAPKAPK5cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
38. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
39. AB030. Study of bone turnover markers and treatment monitoring in osteogenesis imperfecta
40. Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child
41. Molecular and clinical analysis ofALPLin a cohort of patients with suspicion of Hypophosphatasia
42. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
43. Raine Syndrome (OMIM #259775), Caused ByFAM20CMutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
44. Bone-specific therapeutic modalities for genetic skeletal diseases.
45. Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification.
46. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
47. Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion.
48. Screening for parental mitotic nondisjunction as a cause of fetal aneuploidy.
49. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novelROR2gene mutations
50. Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation
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