Al-Hashmi N - 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

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.

4

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Mohammed M, Al-Hashmi N, Al-Rashdi S, Al-Sukaiti N, Al-Adawi K, Al-Riyami M, Al-Maawali A. Mohammed M, et al. Eur J Med Genet. 2019 Nov;62(11):103583. doi: 10.1016/j.ejmg.2018.11.017. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472485

5

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.

Al-Hashmi N, Mohammed M, Al-Kathir S, Al-Yarubi N, Scott P. Al-Hashmi N, et al. Case Rep Genet. 2018 Oct 24;2018:6737938. doi: 10.1155/2018/6737938. eCollection 2018. Case Rep Genet. 2018. PMID: 30473892 Free PMC article.

6

Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.

Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, Tawamie H, Tripolszki K, Karageorgou V, Trunzo R, Al Mutairi F, Reversade B, Bauer P, Bertoli-Avella AM. Alawbathani S, et al. Clin Genet. 2022 Feb;101(2):247-254. doi: 10.1111/cge.14081. Epub 2021 Nov 6. Clin Genet. 2022. PMID: 34708404

7

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.

Al Shidhani A, Al Hinai A, Al Thihli K, Al Mandhari H, Al Yaarubi S, Ullah I, Al-Hashmi N, Al Murshedi F. Al Shidhani A, et al. Among authors: al hashmi n. J Clin Res Pediatr Endocrinol. 2023 Aug 23;15(3):302-306. doi: 10.4274/jcrpe.galenos.2021.2021.0173. Epub 2021 Nov 5. J Clin Res Pediatr Endocrinol. 2023. PMID: 34738771 Free PMC article.

8

Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.

Bruwer Z, Al Ubaidani S, Al Kharusi K, Al Murshedi F, Al-Maawali A, Al Sayegh A, Al Kindy A, Al Riyami N, Al Dughaishi T, Al Salmani M, Al Hashmi N, Al Shehhi M, Al Fahdi B, Al Amri S, Al-Thihli K. Bruwer Z, et al. Among authors: al hashmi n. J Community Genet. 2022 Jun;13(3):303-311. doi: 10.1007/s12687-022-00584-1. Epub 2022 Feb 18. J Community Genet. 2022. PMID: 35179721 Free PMC article.

9

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. Among authors: al hashmi n. 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

10

Domino liver transplantation for maple syrup urine disease in children: A single-center case series.

Kumar V, Gautam V, Agarwal S, Pandey V, Goyal S, Nasa V, Singh SA, Al-Thihli K, Al-Murshedi F, Al Hashmi N, Al Rawahi Y, Al-Bahlani AQ, Al Said K, Gupta S. Kumar V, et al. Among authors: al hashmi n. Pediatr Transplant. 2023 Dec;27(8):e14603. doi: 10.1111/petr.14603. Epub 2023 Sep 1. Pediatr Transplant. 2023. PMID: 37658594

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