Detalhe da pesquisa
1.
Novel APOE Mutation in a Moroccan Subject Suffering from Alzheimer Disease: A Case Study and Exploration of Pathogenic Implication.
Alzheimer Dis Assoc Disord
; 37(4): 370-372, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015425
2.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113005
3.
Williams-Beuren syndrome in diverse populations.
Am J Med Genet A
; 176(5): 1128-1136, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681090
4.
Noonan syndrome in diverse populations.
Am J Med Genet A
; 173(9): 2323-2334, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748642
5.
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 2013, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522030
6.
Predictive Value of ABCC2 and UGT1A1 Polymorphisms on Irinotecan-Related Toxicities in Patients with Cancer.
Genet Test Mol Biomarkers
; 27(5): 133-141, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37257181
7.
Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.
Int J Pediatr Adolesc Med
; 9(2): 98-103, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35663783
8.
Absence of GATA4 Mutations in Moroccan Patients with Atrial Septal Defect (ASD) Provides Further Evidence of Limited Involvement of GATA4 in Major Congenital Heart Defects.
Eurasian J Med
; 52(3): 283-287, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33209082
9.
Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation.
Turk J Gastroenterol
; 29(6): 701-704, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289396
10.
The First Molecular Screening of MLH1 and MSH2 Genes in Moroccan Colorectal Cancer Patients Shows a Relatively High Mutational Prevalence.
Genet Test Mol Biomarkers
; 22(8): 492-497, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30044143
11.
GATA4 molecular screening and assessment of environmental risk factors in a Moroccan cohort with tetralogy of Fallot.
Afr Health Sci
; 18(4): 922-930, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30766556
12.
Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD).
Turk J Pediatr
; 59(5): 610-613, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29745128
13.
NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.
Anatol J Cardiol
; 17(3): 217-223, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27752029
14.
The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family.
Hum Genome Var
; 4: 17023, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28690860
15.
Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate.
Int J Pediatr Adolesc Med
; 3(4): 133-142, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30805484
16.
The first PTPN1 1 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies.
Turk J Med Sci
; 45(2): 306-12, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26084119