Detalhe da pesquisa
1.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genet Med
; 18(1): 49-56, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25790162
2.
Phenotype and molecular characterization of Wilson's disease in Morocco.
Clin Res Hepatol Gastroenterol
; 48(5): 102335, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38588792
3.
[Williams-Beuren syndrome: a retrospective study of a series of 11 cases at the Mohammed VI University Hospital in Marrakech]. / Syndrome de Williams-Beuren: étude rétrospective d'une série de 11 cas du Centre Hospitalier Universitaire Mohammed VI de Marrakech.
Pan Afr Med J
; 46: 94, 2023.
Artigo
em Francês
| MEDLINE | ID: mdl-38405095
4.
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.
Mol Genet Metab Rep
; 36: 100984, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37323222
5.
Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report).
Pan Afr Med J
; 38: 162, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33995769
6.
1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization.
Pan Afr Med J
; 37: 349, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33738037
7.
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
Hum Mutat
; 28(12): 1245, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18000884
8.
First characterization of LHON pedigrees in North Africa.
Eye (Lond)
; 34(11): 2138-2139, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31896800
9.
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
PLoS One
; 8(1): e51622, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23308101
10.
Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in Morocco.
Genet Test Mol Biomarkers
; 16(6): 569-73, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22506488
11.
Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer.
Oncol Lett
; 2(2): 389-393, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22866093