Found: 16
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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
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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
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1050, doi. 10.1002/ajmg.a.37523
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- Article
First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
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- Journal of Molecular Neuroscience, 2023, v. 73, n. 7/8, p. 598, doi. 10.1007/s12031-023-02139-6
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- Article
Molecular and cytogenetic diagnosis of disorders/differences of sex development: molecular update of genes controlling sexual differentiation.
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- Middle East Journal of Medical Genetics, 2021, v. 10, n. 2, p. 58, doi. 10.4103/mxe.mxe_14_21
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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
Clinical and cytogenetic description of three patients with constitutional mosaic trisomy 8.
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- 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
Chromosome 17q duplication associated with 21q telomeric deletion in a female patient with multiple congenital anomalies.
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- Middle East Journal of Medical Genetics, 2016, v. 5, n. 2, p. 54, doi. 10.1097/01.MXE.0000484367.43852.26
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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
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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- Article
Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review.
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- 2019
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- 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
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- Article
Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation.
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- Sexual Development, 2016, v. 9, n. 5, p. 279, doi. 10.1159/000442332
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- Article
An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization.
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- 2018
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- Case Study
The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.
- Published in:
- Molecular Neurobiology, 2024, v. 61, n. 8, p. 4949, doi. 10.1007/s12035-023-03866-y
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- 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
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- Article