Al-Kindi A - Search Results

1

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Al-Kasbi G, Al-Murshedi F, Al-Kindi A, Al-Hashimi N, Al-Thihli K, Al-Saegh A, Al-Futaisi A, Al-Mamari W, Al-Asmi A, Bruwer Z, Al-Kharusi K, Al-Rashdi S, Zadjali F, Al-Yahyaee S, Al-Maawali A. Al-Kasbi G, et al. Sci Rep. 2022 Nov 7;12(1):18862. doi: 10.1038/s41598-022-22036-z. Sci Rep. 2022. PMID: 36344539 Free PMC article.

2

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.

Al-Nabhani M, Al-Rashdi S, Al-Murshedi F, Al-Kindi A, Al-Thihli K, Al-Saegh A, Al-Futaisi A, Al-Mamari W, Zadjali F, Al-Maawali A. Al-Nabhani M, et al. Clin Genet. 2018 Dec;94(6):495-501. doi: 10.1111/cge.13438. Epub 2018 Sep 12. Clin Genet. 2018. PMID: 30125339

3

Spinocerebellar ataxia with axonal neuropathy type 1 revisited.

Scott P, Al Kindi A, Al Fahdi A, Al Yarubi N, Bruwer Z, Al Adawi S, Nandhagopal R. Scott P, et al. J Clin Neurosci. 2019 Sep;67:139-144. doi: 10.1016/j.jocn.2019.05.060. Epub 2019 Jun 8. J Clin Neurosci. 2019. PMID: 31182267

4

Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

Seidahmed MZ, Al-Kindi A, Alsaif HS, Miqdad A, Alabbad N, Alfifi A, Abdelbasit OB, Alhussein K, Alsamadi A, Ibrahim N, Al-Futaisi A, Al-Maawali A, Alkuraya FS. Seidahmed MZ, et al. Hum Genet. 2020 Apr;139(4):513-519. doi: 10.1007/s00439-020-02117-7. Epub 2020 Jan 20. Hum Genet. 2020. PMID: 31960134 Clinical Trial.

5

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. 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

6

Further phenotypic delineation of Alazami syndrome.

Al-Hinai A, Al-Hashmi S, Ganesh A, Al-Hashmi N, Al-Saegh A, Al-Mamari W, Al-Murshedi F, Al-Thihli K, Al-Kindi A, Al-Maawali A. Al-Hinai A, et al. Am J Med Genet A. 2022 Aug;188(8):2485-2490. doi: 10.1002/ajmg.a.62778. Epub 2022 May 14. Am J Med Genet A. 2022. PMID: 35567578

7

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G. Schnabel F, et al. Among authors: al kindi a. Hum Genet. 2023 Apr;142(4):543-552. doi: 10.1007/s00439-023-02528-2. Epub 2023 Mar 21. Hum Genet. 2023. PMID: 36943452 Free PMC article.

8

The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.

Ganesh A, Al-Kindi A, Jain R, Raeburn S. Ganesh A, et al. J AAPOS. 2005 Dec;9(6):604-6. doi: 10.1016/j.jaapos.2005.05.001. J AAPOS. 2005. PMID: 16414535

9

Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa.

Al Shidhani A, Ullah I, AlSaffar H, Al Kindi A, Al Nabhani H, Al Yaarubi S. Al Shidhani A, et al. Oman Med J. 2021 Jan 31;36(1):e226. doi: 10.5001/omj.2021.20. eCollection 2021 Jan. Oman Med J. 2021. PMID: 33628462 Free PMC article.

10

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.

Al-Kindi A, Al-Shehhi M, Westenberger A, Beetz C, Scott P, Brandau O, Abbasi-Moheb L, Yüksel Z, Bauer P, Rolfs A, Grüning NM. Al-Kindi A, et al. J Hum Genet. 2020 Jan;65(2):193-197. doi: 10.1038/s10038-019-0693-2. Epub 2019 Nov 26. J Hum Genet. 2020. PMID: 31767933

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

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

63 results

Search Page