Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Sci Rep. 2022 Nov 7;12(1):18862. doi: 10.1038/s41598-022-22036-z.
Sci Rep. 2022.
PMID: 36344539
Free PMC article.
Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase ( ASNS ) Gene.
Al-Kasbi G, Al-Murshedi F, Al-Futaisi A, Al-Jabry T, Zadjali F, Al-Yahyaee S, Al-Maawali A.
Al-Kasbi G, et al.
J Pediatr Genet. 2022 Oct 13;13(1):1-5. doi: 10.1055/s-0042-1757193. eCollection 2024 Mar.
J Pediatr Genet. 2022.
PMID: 38567172
Free PMC article.
Item in Clipboard
Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism.
Al-Kasbi G, Al-Saegh A, Al-Qassabi A, Al-Jabry T, Zadjali F, Al-Yahyaee S, Al-Maawali A.
Al-Kasbi G, et al.
Mov Disord Clin Pract. 2021 Sep 20;8(8):1253-1257. doi: 10.1002/mdc3.13342. eCollection 2021 Nov.
Mov Disord Clin Pract. 2021.
PMID: 34765690
Free PMC article.
Item in Clipboard
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis.
Al-Shamsi B, Al-Kasbi G, Al-Kindi A, Bruwer Z, Al-Kharusi K, Al-Maawali A.
Al-Shamsi B, et al. Among authors: al kasbi g.
Eur J Med Genet. 2022 Jan;65(1):104376. doi: 10.1016/j.ejmg.2021.104376. Epub 2021 Nov 1.
Eur J Med Genet. 2022.
PMID: 34737117
Item in Clipboard
Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.
Al-Thihli K, Afting C, Al-Hashmi N, Mohammed M, Sliwinski S, Al Shibli N, Al-Said K, Al-Kasbi G, Al-Kharusi K, Merle U, Füllekrug J, Al-Maawali A.
Al-Thihli K, et al. Among authors: al kasbi g.
Clin Genet. 2021 Mar;99(3):376-383. doi: 10.1111/cge.13883. Epub 2020 Nov 25.
Clin Genet. 2021.
PMID: 33191500
Item in Clipboard
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.
Al-Futaisi A, Ahmad F, Al-Kasbi G, Al-Thihli K, Koul R, Al-Maawali A.
Al-Futaisi A, et al. Among authors: al kasbi g.
Clin Genet. 2020 Apr;97(4):666-667. doi: 10.1111/cge.13678. Epub 2019 Dec 6.
Clin Genet. 2020.
PMID: 31808147
No abstract available.
Item in Clipboard
Phenotypic spectrum of ALPK3-related cardiomyopathy.
Al Senaidi K, Joshi N, Al-Nabhani M, Al-Kasbi G, Al Farqani A, Al-Thihli K, Al-Maawali A.
Al Senaidi K, et al. Among authors: al kasbi g.
Am J Med Genet A. 2019 Jul;179(7):1235-1240. doi: 10.1002/ajmg.a.61176. Epub 2019 May 10.
Am J Med Genet A. 2019.
PMID: 31074094
Item in Clipboard
Cite
Cite