Detalhe da pesquisa
1.
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Hum Genet
; 141(1): 101-126, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34853893
2.
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Genet Med
; 22(12): 2071-2080, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741967
3.
The role of HOX genes in head and neck squamous cell carcinoma.
J Oral Pathol Med
; 45(4): 239-47, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26661059
4.
Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder.
Prenat Diagn
; 36(5): 418-23, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26918529
5.
HLA-based banking of induced pluripotent stem cells in Saudi Arabia.
Stem Cell Res Ther
; 14(1): 374, 2023 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38111036
6.
Cycle Threshold Value as a Predictor of Severity and Intensive Care Unit Admission for Children Presenting to the Emergency Department With COVID-19: A Single-Center Experience From Saudi Arabia.
Cureus
; 14(7): e26614, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35936119
7.
A Novel Variant of Adenosine Deaminase 2 Deficiency Presented With Chronic Thrombocytopenia, Anemia, and Early-Onset Stroke.
Cureus
; 13(5): e15288, 2021 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34221752
8.
A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report.
Cureus
; 13(12): e20543, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35070570
9.
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
EMBO Mol Med
; 12(11): e12619, 2020 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32969598
10.
Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene.
BMJ Case Rep
; 12(5)2019 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31151966
11.
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.
Seizure
; 69: 133-139, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31035234
12.
A case of atypical systemic primary carnitine deficiency in Saudi Arabia.
Pediatr Rep
; 10(2): 7705, 2018 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30069296
13.
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Eur J Hum Genet
; 26(4): 592-598, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449720
14.
The role of HOXB9 and miR-196a in head and neck squamous cell carcinoma.
PLoS One
; 10(4): e0122285, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25860510