Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
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
3.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244665
4.
The morbid genome of ciliopathies: an update.
Genet Med
; 22(6): 1051-1060, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32055034
5.
Autozygome and high throughput confirmation of disease genes candidacy.
Genet Med
; 21(3): 736-742, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237576
6.
Musculoskeletal symptoms among radiologists in Saudi Arabia: a multi-center cross-sectional study.
BMC Musculoskelet Disord
; 20(1): 541, 2019 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31727049
7.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29205472
8.
Genetic Influence in Developmental Dysplasia of the Hip in Saudi Arabian Children Due to GDF5 Polymorphism.
Biochem Genet
; 56(6): 618-626, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797005
9.
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
10.
The morbid genome of ciliopathies: an update.
Genet Med
; 24(4): 966, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394428
11.
Parental Beliefs and Attitudes Toward the Use of Baby Walkers in the Eastern Region of Saudi Arabia.
Cureus
; 15(11): e48940, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38106712
12.
Family-base rare variant association analysis in Saudi Arabian hydrocephalus subjects using whole exome sequencing.
J Neurosurg Sci
; 2023 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158713
13.
Time of surgery and surgeon level in supracondylar humerus fractures in pediatric patients: A retrospective study.
World J Orthop
; 14(11): 791-799, 2023 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38075474
14.
Assessing Acetabular Index Angle in Infants: A Deep Learning-Based Novel Approach.
J Imaging
; 9(11)2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37998088
15.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Eur J Hum Genet
; 31(9): 1023-1031, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344571
16.
A review of polydactyly and its inheritance: Connecting the dots.
Medicine (Baltimore)
; 101(50): e32060, 2022 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36550802
17.
Blood utilization and quality indicators at a university hospital in the Eastern Province of Saudi Arabia.
PLoS One
; 17(4): e0267449, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35452477
18.
Clinical profile, risk factors and outcomes of ric COVID-19: a retrospective cohort multicentre study in Saudi Arabia.
BMJ Open
; 12(3): e053722, 2022 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35277403
19.
Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism.
Children (Basel)
; 8(10)2021 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34682101
20.
Genetic Variants of RPL5 and RPL9 Genes among Saudi Patients Diagnosed with Thrombosis.
Med Arch
; 75(3): 188-193, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34483448