Detalhe da pesquisa
1.
Knowledge and attitudes regarding non-invasive prenatal testing among women in Saudi Arabia.
Prenat Diagn
; 41(10): 1343-1350, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159638
2.
Autozygome and high throughput confirmation of disease genes candidacy.
Genet Med
; 21(3): 736-742, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237576
3.
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Am J Med Genet A
; 176(12): 2850-2857, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345601
4.
Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
J Neurophysiol
; 118(4): 2402-2411, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28747464
5.
The development of genetic counseling services and training program in Saudi Arabia.
J Genet Couns
; 22(6): 835-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037027
6.
Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.
Genet Test Mol Biomarkers
; 27(5): 142-148, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37257178
7.
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
Eur J Pediatr
; 168(12): 1467-71, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19259699
8.
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
J Med Genet
; 49(4): 246-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22499343
9.
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
em Inglês
| MEDLINE | ID: mdl-28417071
10.
Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia.
Int J Pediatr Adolesc Med
; 3(1): 1-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30805460
11.
Combined TSC1 and LMX1B mutations in a single patient.
Clin Dysmorphol
; 23(2): 47-51, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24477276