Detalhe da pesquisa
1.
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
2.
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
3.
High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
J Appl Genet
; 65(2): 303-308, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987971
4.
Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis.
Pan Afr Med J
; 41: 121, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35480407
5.
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Nat Commun
; 10(1): 1180, 2019 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30862798
6.
Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.
J Med Case Rep
; 12(1): 322, 2018 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30371346
7.
Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.
Eur J Hum Genet
; 25(6): 783-787, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28295041
8.
Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation.
Anatol J Cardiol
; 20(1): 65-68, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29952368