Found: 16
Select item for more details and to access through your institution.
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
- By:
- Publication type:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Chromosome 17q duplication associated with 21q telomeric deletion in a female patient with multiple congenital anomalies.
- Published in:
- Middle East Journal of Medical Genetics, 2016, v. 5, n. 2, p. 54, doi. 10.1097/01.MXE.0000484367.43852.26
- By:
- Publication type:
- Article
XX testicular disorder of sex development with Down syndrome.
- Published in:
- Middle East Journal of Medical Genetics, 2014, v. 3, n. 2, p. 70, doi. 10.1097/01.MXE.0000449829.69875.e5
- By:
- Publication type:
- Article
Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s43042-020-00090-4
- By:
- Publication type:
- Article
Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 284, doi. 10.1159/000510428
- By:
- Publication type:
- Article
Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review.
- Published in:
- 2019
- By:
- Publication type:
- Abstract
Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development.
- Published in:
- Sexual Development, 2018, v. 12, n. 5, p. 211, doi. 10.1159/000490840
- By:
- Publication type:
- Article
Aromatase Deficiency due to a Homozygous <bold><italic>CYP19A1</italic></bold> Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.
- Published in:
- Sexual Development, 2017, v. 11, n. 5/6, p. 275, doi. 10.1159/000485278
- By:
- Publication type:
- Article
Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation.
- Published in:
- Sexual Development, 2016, v. 9, n. 5, p. 279, doi. 10.1159/000442332
- By:
- Publication type:
- Article
46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene.
- Published in:
- Sexual Development, 2014, v. 8, n. 4, p. 151, doi. 10.1159/000363201
- By:
- Publication type:
- Article
An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1050, doi. 10.1002/ajmg.a.37523
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1546
- By:
- Publication type:
- Article