Detalhe da pesquisa
1.
Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation.
Cytogenet Genome Res;
160(3): 124-133, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32187602
2.
Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features.
Cytogenet Genome Res;
159(3): 130-136, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31715598
3.
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
Am J Med Genet A;
167A(10): 2418-24, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26033841
4.
Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.
Am J Med Genet A;
167A(5): 1089-99, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25755095
5.
Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone.
Am J Med Genet A;
164A(2): 480-3, 2014 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24311025
6.
Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility.
J Genet Eng Biotechnol;
21(1): 111, 2023 Nov 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37947911
7.
Dyslexia with and without Irlen syndrome: A study of influence on abilities and brain-derived neurotrophic factor level.
Ibrain;
9(1): 32-42, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37786524
8.
MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience.
J Genet Eng Biotechnol;
20(1): 112, 2022 Jul 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35900681
9.
Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma.
Ophthalmic Genet;
43(6): 789-794, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36098066
10.
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
Am J Med Genet A;
155A(11): 2885-96, 2011 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21990275
11.
IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children.
J Genet Eng Biotechnol;
19(1): 109, 2021 Jul 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34322776
12.
Evaluation of MLPA as a comprehensive molecular cytogenetic tool to detect cytogenetic markers of chronic lymphocytic leukemia in Egyptian patients.
J Genet Eng Biotechnol;
19(1): 98, 2021 Jun 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34181122
13.
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
14.
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
Mol Genet Genomic Med;
9(11): e1829, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34609792
15.
Erratum: Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.
J Pediatr Genet;
9(3): e1, 2020 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36644229
16.
Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.
J Pediatr Genet;
9(3): 207-210, 2020 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32714624
17.
Detection of low-grade mosaicism and its correlation with hormonal profile, testicular volume, and semen quality in a cohort of Egyptian Klinefelter and Klinefelter-like patients.
Reprod Biol;
20(2): 259-263, 2020 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32115387
18.
Altered Expression of MicroRNAs in the Bone Marrow of Multiple Myeloma Patients and their Relationship to Cytogenetic Aberrations.
Curr Pharm Biotechnol;
21(13): 1394-1401, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32196445
19.
Cyclin D1 gene amplification in proliferating haemangioma.
Cell Tissue Res;
338(1): 107-15, 2009 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19823825
20.
Registry of ocular anomalies among patients with genetic disorders attending the clinical genetics department at the National Research Center in Egypt.
Ophthalmic Genet;
38(5): 418-421, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28107085