Detalhe da pesquisa
1.
Expanding the phenotypic spectrum and clinical severity associated with WLS gene.
J Hum Genet
; 68(9): 607-613, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37106064
2.
Consanguinity and Inbreeding in Health and Disease in North African Populations.
Annu Rev Genomics Hum Genet
; 20: 155-179, 2019 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31039041
3.
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.
Hum Genet
; 141(11): 1697-1704, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488921
4.
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Am J Med Genet A
; 182(6): 1407-1420, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32267100
5.
Lenz-Majewski syndrome in a patient from Egypt.
Am J Med Genet A
; 179(10): 2039-2042, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31403251
6.
Concise Review: Getting to the Core of Inherited Bone Marrow Failures.
Stem Cells
; 35(2): 284-298, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27870251
7.
Can myocardial remodeling be a useful surrogate predictor of myocardial iron load? A 3D echocardiographic multicentric study.
Pediatr Blood Cancer
; 65(10): e27272, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29873876
8.
Quality of Life Outcomes in a Pediatric Thalassemia Population in Egypt.
Hemoglobin
; 41(1): 16-20, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28440111
9.
Application of Genomic Medicine in Africa: 14th Conference of the African Society of Human Genetics and the 2nd International Congress of the Moroccan Society of Genomics and Human Genetics, Rabat, Morocco 2022.
Am J Trop Med Hyg
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697089
10.
Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.
Genes (Basel)
; 14(4)2023 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107657
11.
Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.
J Genet Eng Biotechnol
; 21(1): 149, 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38017244
12.
Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.
J Genet Eng Biotechnol
; 20(1): 117, 2022 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35939165
13.
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
Genes (Basel)
; 13(6)2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741818
14.
"Black Lives Matter and Black Research Matters": the African Society of Human Genetics' call to halt racism in science.
Mol Biol Cell
; 33(9): vo2, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35862495
15.
Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries.
J Pers Med
; 12(4)2022 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35455667
16.
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
17.
Defining the molecular pathology and consequent phenotypes in Egyptian HB patients.
J Genet Eng Biotechnol
; 19(1): 75, 2021 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999344
18.
Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.
Genes (Basel)
; 12(2)2021 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33672602
19.
Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.
Genes (Basel)
; 12(10)2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34680947
20.
Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.
Mol Genet Genomic Med
; 9(2): e1575, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33342086