Detalhe da pesquisa
1.
Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome.
Sci Rep
; 14(1): 12148, 2024 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38802532
2.
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
3.
New drug-like small molecule antagonizes phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in patients with conotruncal heart defects.
J Taibah Univ Med Sci
; 18(6): 1244-1253, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37250809
4.
Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.
J Genet Eng Biotechnol
; 20(1): 44, 2022 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35275316
5.
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.
Egypt Heart J
; 74(1): 65, 2022 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36076093
6.
Dynamic disequilibrium-based pathogenicity model in mutated pyrin's B30.2 domain-Casp1/p20 complex.
J Genet Eng Biotechnol
; 20(1): 31, 2022 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35190906
7.
Non-target Genes Regulate miRNAs-Mediated Migration Steering of Colorectal Carcinoma.
Pathol Oncol Res
; 25(2): 559-566, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30361904
8.
Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia.
Appl Clin Genet
; 11: 81-87, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30050315