Found: 31
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Brachydactyly.
- Published in:
- Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-15
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- Article
A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 39, doi. 10.1002/ajmg.a.63415
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- Article
CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2100, doi. 10.1002/ajmg.a.63246
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- Article
Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1815, doi. 10.1002/ajmg.a.62718
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- Article
Samia Temtamy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3613, doi. 10.1002/ajmg.a.62409
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- Article
Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2857, doi. 10.1002/ajmg.a.61857
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- Article
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1407, doi. 10.1002/ajmg.a.61585
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- Article
GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 237, doi. 10.1002/ajmg.a.61021
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- Article
Phenotypic and molecular insights into PQBP1‐related intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2446, doi. 10.1002/ajmg.a.40479
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- Article
Identification of a novel homozygous <italic>ALX4</italic> mutation in two unrelated patients with frontonasal dysplasia type‐2.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1190, doi. 10.1002/ajmg.a.38655
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- Article
Further delineation of the clinical spectrum in RNU 4 ATAC related microcephalic osteodysplastic primordial dwarfism type I.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1875, doi. 10.1002/ajmg.a.36009
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- Article
Growth curves of Egyptian patients with Turner syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2687, doi. 10.1002/ajmg.a.35518
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- Article
Anthropometric measurements in Egyptian patients with osteogenesis imperfecta.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2714, doi. 10.1002/ajmg.a.35529
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- Article
Growth charts of Down syndrome in Egypt: A study of 434 children 0-36 months of age.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2647, doi. 10.1002/ajmg.a.35468
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- Publication type:
- Article
3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease.
- Published in:
- Bone Research, 2021, v. 9, n. 1, p. 1, doi. 10.1038/s41413-021-00156-y
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- Article
Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families.
- Published in:
- Middle East Journal of Medical Genetics, 2020, v. 9, n. 2, p. 1
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- Article
Orodental abnormalities in limb malformation syndromes: A review article.
- Published in:
- Middle East Journal of Medical Genetics, 2020, v. 9, n. 1, p. 1
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- Article
Genetic characterization of a patient with Cornelia de Lange syndrome with a novel NIPBL missense mutation.
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- Middle East Journal of Medical Genetics, 2020, v. 9, n. 1, p. 1
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- Article
Screening for parental mitotic nondisjunction as a cause of fetal aneuploidy.
- Published in:
- Middle East Journal of Medical Genetics, 2018, v. 7, n. 1, p. 26, doi. 10.4103/MXE.MXE_1_18
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- Article
Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child.
- Published in:
- Middle East Journal of Medical Genetics, 2017, v. 6, n. 2, p. 82, doi. 10.1097/01.MXE.0000521018.95032.31
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- Article
Clinical and cytogenetic description of three patients with constitutional mosaic trisomy 8.
- Published in:
- Middle East Journal of Medical Genetics, 2017, v. 8, n. 1, p. 29, doi. 10.1097/01.MXE.0000511080.21083.0a
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- Article
Exome sequencing in the diagnosis of an atypical phenotype of infantile hyalinosis.
- Published in:
- Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 18, doi. 10.1097/01.MXE.0000457060.97665.02
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- Article
Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation.
- Published in:
- Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 7, doi. 10.1097/01.MXE.0000457061.88602.72
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- Article
Assessment of Pubertal Development in Egyptian Girls.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 6, p. 577, doi. 10.1515/jpem.2005.18.6.577
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- Article
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 28, doi. 10.1002/mgg3.257
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- Article
Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy.
- Published in:
- Osteoporosis International, 2022, v. 33, n. 7, p. 1501, doi. 10.1007/s00198-022-06313-1
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- Article
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 265, doi. 10.1002/humu.23921
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- Article
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1203, doi. 10.1002/humu.22617
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- Article
A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 959, doi. 10.1002/humu.22597
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- Publication type:
- Article
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
- Published in:
- Human Mutation, 2008, v. 29, n. 7, p. 931, doi. 10.1002/humu.20778
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- Article
Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2009, v. 10, n. 1, p. 13
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- Article