Found: 17
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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1631
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- Article
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1829
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- Article
Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1575
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- Article
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2885, doi. 10.1002/ajmg.a.34299
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- Article
Exploring Telomere Length in Progeroid Syndromes Through Quantitative Fluorescence In-Situ Hybridization (QFISH).
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- Middle East Journal of Medical Genetics, 2023, v. 12, n. 1, p. 1, doi. 10.21608/MXE.2024.254410.1009
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- Article
Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis.
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- Middle East Journal of Medical Genetics, 2022, v. 11, n. 2, p. 58, doi. 10.21608/MXE.2023.287527
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- Article
Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort.
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- Middle East Journal of Medical Genetics, 2022, v. 11, n. 1, p. 19, doi. 10.21608/MXE.2023.283879
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- Article
Cytogenetics evaluation of the effect of cord blood versus adult red blood cells on chromosomal breakage in Fanconi anemia.
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- Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 13, doi. 10.1097/01.MXE.0000456626.14919.1f
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- Article
Screening for common mutations in four FANCA gene exons in Egyptian Fanconi anemia patients.
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- Middle East Journal of Medical Genetics, 2014, v. 3, n. 1, p. 24, doi. 10.1097/01.MXE.0000438179.47299.3c
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- Article
Craniofacial anthropometric measurements of the cohort of Egyptian male school children and their utility in detection of abnormalities.
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- Bulletin of the National Research Centre, 2024, v. 48, n. 1, p. 1, doi. 10.1186/s42269-024-01184-4
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- Article
Ligneous Conjunctivitis with Oral Mucous Membrane Involvement and Decreased Plasminogen Level.
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- Pediatric Dermatology, 2009, v. 26, n. 4, p. 448, doi. 10.1111/j.1525-1470.2009.00951.x
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- Article
Developing a Road Map to Spread Genomic Knowledge in Africa: 10th Conference of the African Society of Human Genetics, Cairo, Egypt.
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- American Journal of Tropical Medicine & Hygiene, 2020, v. 102, n. 4, p. 719, doi. 10.4269/ajtmh.19-0408
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- Article
Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.
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- Genes, 2023, v. 14, n. 4, p. 900, doi. 10.3390/genes14040900
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- Article
Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.
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- Genes, 2021, v. 12, n. 10, p. 1552, doi. 10.3390/genes12101552
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- Article
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA , EDAR , and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
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- Genes, 2021, v. 12, n. 9, p. 1389, doi. 10.3390/genes12091389
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- Article
Farber disease overlapping with stiff skin syndrome: Expanding the spectrum.
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- Egyptian Journal of Medical Human Genetics, 2009, v. 10, n. 1, p. 97
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- Article
EEG changes and neuroimaging abnormalities in relevance to severity of autism.
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- Egyptian Journal of Medical Human Genetics, 2009, v. 10, n. 1, p. 63
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- Article