Found: 20
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Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1829
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- Article
Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1546
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- Article
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2418, doi. 10.1002/ajmg.a.37185
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- Article
Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1089, doi. 10.1002/ajmg.a.37010
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- Article
Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 480, doi. 10.1002/ajmg.a.36276
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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
Phelan-McDermid Syndrome: Expanding the Phenotype.
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- Middle East Journal of Medical Genetics, 2022, v. 11, n. 2, p. 46, doi. 10.21608/MXE.2023.287525
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- Article
Molecular characterization of patients with clinical suspicion of 22q11.2 deletion syndrome.
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- Middle East Journal of Medical Genetics, 2018, v. 7, n. 1, p. 32, doi. 10.4103/MXE.MXE_3_18
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- Article
Molecular cytogenetic techniques for identification of copy-number variations.
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- Middle East Journal of Medical Genetics, 2017, v. 8, n. 1, p. 1, doi. 10.1097/01.MXE.0000510784.43101.7a
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- Article
Cytogenetics abnormalities in a referred population for chromosomal analysis and the role of fluorescence in-situ hybridization in refining the diagnosis.
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- Middle East Journal of Medical Genetics, 2017, v. 8, n. 1, p. 13, doi. 10.1097/01.MXE.0000510783.68308.a4
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- Article
Evaluation of the frequency of sister chromatid exchanges and micronuclei in children with type-1 diabetes mellitus.
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- Middle East Journal of Medical Genetics, 2016, v. 5, n. 1, p. 26, doi. 10.1097/01.MXE.0000475220.51742.95
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- Article
Epilepsy and autistic manifestations in an Egyptian child with ring 14.
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- Middle East Journal of Medical Genetics, 2014, v. 3, n. 2, p. 65, doi. 10.1097/01.MXE.0000449830.77498.77
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- Article
Cytokinesis-blocked micronucleus assay in a group of Egyptian patients with Fanconi anemia.
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- Middle East Journal of Medical Genetics, 2012, v. 1, n. 2, p. 76, doi. 10.1097/01.MXE.0000414809.51187.d6
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- Article
Study of sensory processing deficits in autism spectrum disorder symptom triad: an Egyptian sample.
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- Middle East Current Psychiatry, 2021, v. 28, n. 1, p. 1, doi. 10.1186/s43045-020-00082-5
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- Article
Cyclin D1 gene amplification in proliferating haemangioma.
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- Cell & Tissue Research, 2009, v. 338, n. 1, p. 107, doi. 10.1007/s00441-009-0858-y
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- Article
Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder.
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- Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00202-8
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- Article
Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation.
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- Cytogenetic & Genome Research, 2020, v. 160, n. 3, p. 124, doi. 10.1159/000506430
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- Article
Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features.
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- Cytogenetic & Genome Research, 2019, v. 159, n. 3, p. 130, doi. 10.1159/000504075
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- Article
Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature.
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- Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s43042-020-00090-4
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- Article
Telomerase reverse transcriptase gene amplification in hematological malignancies.
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- Egyptian Journal of Medical Human Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s43042-019-0036-z
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- Article