Detalhe da pesquisa
1.
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.
Proc Natl Acad Sci U S A
; 117(24): 13680-13688, 2020 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32493750
2.
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.
Am J Med Genet A
; 170A(4): 1050-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26749249
3.
An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization.
J Assist Reprod Genet
; 35(8): 1503-1508, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29860576
4.
First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
J Mol Neurosci
; 73(7-8): 598-607, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470904
5.
The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.
Mol Neurobiol
; 2023 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38153683
6.
Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.
Mol Genet Genomic Med
; 9(2): e1546, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217222
7.
Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.
Mol Syndromol
; 11(5-6): 284-295, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33510599
8.
Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review.
Sex Dev
; 13(5-6): 221-227, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32535607
9.
Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development.
Sex Dev
; 12(5): 211-217, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30007989
10.
Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation.
Sex Dev
; 9(5): 279-88, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26656938