Detalhe da pesquisa
1.
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Am J Hum Genet
; 110(9): 1470-1481, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37582359
2.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1069-1082, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022130
3.
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
Hum Genet
; 142(4): 477-482, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36715754
4.
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Am J Hum Genet
; 104(4): 731-737, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905400
5.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet
; 104(6): 1182-1201, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130284
6.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain
; 144(3): 769-780, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33764426
7.
The morbid genome of ciliopathies: an update.
Genet Med
; 22(6): 1051-1060, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32055034
8.
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Clin Genet
; 97(3): 447-456, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31730227
9.
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.
Genet Med
; 21(5): 1164-1172, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30250217
10.
Autozygome and high throughput confirmation of disease genes candidacy.
Genet Med
; 21(3): 736-742, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237576
11.
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Clin Genet
; 95(2): 310-319, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561787
12.
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
Hum Mutat
; 39(4): 461-470, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29282788
13.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Hum Genet
; 136(8): 921-939, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28600779
14.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet
; 105(4): 879, 2019 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585110
15.
The morbid genome of ciliopathies: an update.
Genet Med
; 24(4): 966, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394428
16.
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
J Paediatr Child Health
; 53(6): 585-591, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28337809
17.
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Hum Genet
; 135(5): 525-540, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27023906
18.
Children's Oral Health Status Among Urban and Rural Areas of Qassim Region, Saudi Arabia: A Cross-Sectional Study.
Cureus
; 15(10): e47947, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-38034196
19.
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Nat Commun
; 14(1): 4109, 2023 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433783
20.
Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
Front Pediatr
; 10: 1051534, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36923948