Detalhe da pesquisa
1.
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population.
BMC Med Genet
; 12: 91, 2011 Jul 04.
Artigo
Inglês
| MEDLINE | ID: mdl-21726435
2.
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
Mol Genet Metab Rep
; 11: 17-23, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28417071
3.
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
JIMD Rep
; 29: 39-46, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26615597
4.
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.
Eur J Med Genet
; 58(5): 293-9, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25682901
5.
Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.
JIMD Rep
; 2: 107-11, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23430862