Found: 32
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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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- Publication type:
- Article
Mutation (variation) databases and registries: a rationale for coordination of efforts.
- Published in:
- 2011
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- Publication type:
- letter
Phelan-McDermid Syndrome: Expanding the Phenotype.
- Published in:
- Middle East Journal of Medical Genetics, 2022, v. 11, n. 2, p. 46, doi. 10.21608/MXE.2023.287525
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- Publication type:
- Article
Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients.
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- Middle East Journal of Medical Genetics, 2022, v. 11, n. 1, p. 29, doi. 10.21608/MXE.2023.283880
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- Publication type:
- Article
Cytogenetic study of a large cohort of patients with corpus callosum abnormalities.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 158, doi. 10.4103/MXE.MXE_7_20
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- Publication type:
- Article
Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion.
- Published in:
- Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 150, doi. 10.4103/MXE.MXE_17_19
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- Publication type:
- Article
Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22.
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- Middle East Journal of Medical Genetics, 2018, v. 7, n. 2, p. 139, doi. 10.4103/MXE.MXE_19_18
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- Publication type:
- 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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- Publication type:
- Article
Cytogenetics abnormalities in a referred population for chromosomal analysis and the role of fluorescence in-situ hybridization in refining the diagnosis.
- Published in:
- 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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- Publication type:
- Article
XX testicular disorder of sex development with Down syndrome.
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- Middle East Journal of Medical Genetics, 2014, v. 3, n. 2, p. 70, doi. 10.1097/01.MXE.0000449829.69875.e5
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- Publication type:
- Article
Detection of mutations in GATA4 and Nkx2.5 genes in patients with Fallot’s tetralogy.
- Published in:
- Middle East Journal of Medical Genetics, 2012, v. 1, n. 1, p. 49, doi. 10.1097/01.MXE.0000407732.76680.89
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- Publication type:
- Article
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 279, doi. 10.1159/000516607
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- Publication type:
- Article
Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome.
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- Molecular Syndromology, 2021, v. 12, n. 2, p. 87, doi. 10.1159/000513313
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- Publication type:
- Article
Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.
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- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 284, doi. 10.1159/000510428
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- Publication type:
- Article
Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.
- Published in:
- Sexual Development, 2016, v. 10, n. 1, p. 16, doi. 10.1159/000444948
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- Publication type:
- Article
Altered Adaptive Cellular Immune Function in a Group of Egyptian Children with Autism.
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- Journal of Clinical & Diagnostic Research, 2017, v. 11, n. 10, p. 14, doi. 10.7860/JCDR/2017/28124.10782
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- Publication type:
- Article
Variable Associations of Klinefelter Syndrome in Children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 10, p. 985, doi. 10.1515/jpem.2010.158
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- Publication type:
- Article
Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case–control study including meta-analysis based on 147 cases and 143 controls.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00408-y
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- Publication type:
- Article
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 207, doi. 10.1002/ajmg.a.33777
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- Publication type:
- Article
miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients.
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- Egyptian Heart Journal, 2022, v. 74, n. 1, p. 1, doi. 10.1186/s43044-022-00300-x
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- Publication type:
- Article
Correction: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.
- Published in:
- Journal of Genetic Engineering & Biotechnology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s43141-022-00399-0
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- Publication type:
- Article
Human variome project country nodes: Documenting genetic information within a country.
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- Human Mutation, 2012, v. 33, n. 11, p. 1513, doi. 10.1002/humu.22147
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- Publication type:
- Article
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1666, doi. 10.1002/ajmg.a.62129
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- Publication type:
- Article
Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2857, doi. 10.1002/ajmg.a.61857
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- Publication type:
- Article
Identification of a novel homozygous <italic>ALX4</italic> mutation in two unrelated patients with frontonasal dysplasia type‐2.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1190, doi. 10.1002/ajmg.a.38655
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- Publication type:
- Article
Clinical and Molecular Characterization of Seven Egyptian Families with Autosomal Recessive Robinow Syndrome: Identification of Four Novel ROR2 Gene Mutations.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3054, doi. 10.1002/ajmg.a.37287
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- Publication type:
- Article
Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD).
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1594, doi. 10.1002/ajmg.a.35487
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/517815
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- Publication type:
- Article
Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
- Published in:
- Congenital Anomalies, 2022, v. 62, n. 2, p. 68, doi. 10.1111/cga.12457
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- Publication type:
- Article