Detalles de la búsqueda
1.
Novel pathogenic WHRN variant causing hearing loss in a moroccan family.
Mol Biol Rep
; 50(12): 10663-10669, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37924449
2.
Genetic Association of LEP Gene Polymorphisms with Obesity in Moroccan Individuals: Case-Control Study and Updated Meta-analysis.
Biochem Genet
; 61(5): 1758-1774, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-36792840
3.
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.
Biochem Genet
; 2023 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37777971
4.
Consanguinity and Inbreeding in Health and Disease in North African Populations.
Annu Rev Genomics Hum Genet
; 20: 155-179, 2019 08 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-31039041
5.
Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
Mol Vis
; 27: 17-25, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33633436
6.
First characterization of congenital myasthenic syndrome type 5 in North Africa.
Mol Biol Rep
; 48(10): 6999-7006, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34553317
7.
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
Hum Hered
; 85(1): 35-39, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33486474
8.
Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.
J Clin Immunol
; 40(1): 96-104, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31696364
9.
A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis.
Hum Hered
; 84(6): 272-278, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-33075768
10.
Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness.
Hum Hered
; 84(3): 109-116, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31801140
11.
Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21-year single-center experience.
Am J Med Genet A
; 179(8): 1516-1524, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31207162
12.
Chromosomal Abnormalities in Patients with Intellectual Disability: A 21-Year Retrospective Study.
Hum Hered
; 83(5): 274-282, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-31064002
13.
Chromosomal abnormalities in couples with recurrent spontaneous miscarriage: a 21-year retrospective study, a report of a novel insertion, and a literature review.
J Assist Reprod Genet
; 36(3): 499-507, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30470960
14.
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Am J Hum Genet
; 97(5): 754-60, 2015 Nov 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26593267
15.
Methylenetetrahydrofolate Reductase Gene Polymorphisms (C677T and A1298C) and Hemorrhagic Stroke in Moroccan Patients.
J Stroke Cerebrovasc Dis
; 27(7): 1837-1843, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29555401
16.
Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.
Mol Biol Rep
; 44(5): 429-434, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28951997
17.
X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
J Clin Immunol
; 36(3): 187-94, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26931785
18.
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Hum Mutat
; 36(11): E2441-53, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26173767
19.
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
Am J Hum Genet
; 91(5): 919-27, 2012 Nov 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-23084290
20.
Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients.
BMC Cancer
; 15: 81, 2015 Feb 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-25885115