Found: 12
Select item for more details and to access through your institution.
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01228-w
- By:
- Publication type:
- Article
A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Clinical, Hematological, and Biochemical Alterations Associated With Early and Late Infection of Lumpy Skin Disease in Cattle in Egypt.
- Published in:
- Alexandria Journal of Veterinary Sciences, 2023, v. 76, n. 1, p. 133, doi. 10.5455/ajvs.104181
- By:
- Publication type:
- Article
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006206
- By:
- Publication type:
- Article
Qatar genome: Insights on genomics from the Middle East.
- Published in:
- Human Mutation, 2022, v. 43, n. 4, p. 499, doi. 10.1002/humu.24336
- By:
- Publication type:
- Article
A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 8, p. 1839, doi. 10.1007/s10875-021-01115-2
- By:
- Publication type:
- Article
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25287-y
- By:
- Publication type:
- Article
Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00170-3
- By:
- Publication type:
- Article
PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 8, p. 1782, doi. 10.3390/cells9081782
- By:
- Publication type:
- Article
1748-P: One Novel 7.2kb Deletion in Exon 8 of INSR Gene in Diabetic Qatari Female with Type A Insulin Resistance Syndrome: The 1000 Qatar-Omics Study Cohort.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1748-P
- By:
- Publication type:
- Article