Al-Thihli K - Search Results

1

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. Clin Genet. 2021 Mar;99(3):376-383. doi: 10.1111/cge.13883. Epub 2020 Nov 25. Clin Genet. 2021. PMID: 33191500

2

Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional study.

Al-Thihli K, Al-Murshedi F, Al-Hashmi N, Al-Mamari W, Islam MM, Al-Yahyaee SA. Al-Thihli K, et al. Hum Hered. 2014;77(1-4):183-8. doi: 10.1159/000362686. Epub 2014 Jul 29. Hum Hered. 2014. PMID: 25060282 Free article.

3

Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.

Bruwer Z, Al Riyami N, Al Dughaishi T, Al Murshedi F, Al Sayegh A, Al Kindy A, Meftah D, Al Kharusi K, Al Foori A, Al Yarubi N, Scott P, Al-Thihli K. Bruwer Z, et al. J Perinat Med. 2018 Nov 27;46(9):968-974. doi: 10.1515/jpm-2017-0124. J Perinat Med. 2018. PMID: 28822227

4

Expanding the clinical and genetic spectra of NKX6-2-related disorder.

Baldi C, Bertoli-Avella AM, Al-Sannaa N, Alfadhel M, Al-Thihli K, Alameer S, Elmonairy AA, Al Shamsi AM, Abdelrahman HA, Al-Gazali L, Shawli A, Al-Hakami F, Yavuz H, Kandaswamy KK, Rolfs A, Brandau O, Bauer P. Baldi C, et al. Clin Genet. 2018 May;93(5):1087-1092. doi: 10.1111/cge.13221. Clin Genet. 2018. PMID: 29388673

5

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.

Suleiman J, Al Hashem AM, Tabarki B, Al-Thihli K, Bi W, El-Hattab AW. Suleiman J, et al. Clin Genet. 2018 Oct;94(3-4):351-355. doi: 10.1111/cge.13387. Epub 2018 Jun 25. Clin Genet. 2018. PMID: 29808498

6

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

7

Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience.

Shanmugam NP, Valamparampil JJ, Reddy MS, Al Said KJ, Al-Thihli K, Al-Hashmi N, Al-Jishi E, Isa HMA, Jalan AB, Rela M. Shanmugam NP, et al. JIMD Rep. 2019;45:29-36. doi: 10.1007/8904_2018_137. Epub 2018 Oct 12. JIMD Rep. 2019. PMID: 30311140 Free PMC article.

8

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. 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

9

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. 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.

10

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.

Alzahrani F, Kuwahara H, Long Y, Al-Owain M, Tohary M, AlSayed M, Mahnashi M, Fathi L, Alnemer M, Al-Hamed MH, Lemire G, Boycott KM, Hashem M, Han W, Al-Maawali A, Al Mahrizi F, Al-Thihli K, Gao X, Alkuraya FS. Alzahrani F, et al. Am J Hum Genet. 2020 Dec 3;107(6):1178-1185. doi: 10.1016/j.ajhg.2020.11.007. Epub 2020 Nov 25. Am J Hum Genet. 2020. PMID: 33242396 Free PMC article.

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