Alshamsi A - Search Results

1

Severe Prolonged SGLT2i-induced Euglycemic Diabetic Ketoacidosis Refractory to Standard Therapy and Dialysis: Case Report and Literature Review.

Almazrouei R, Alkindi F, Alshamsi A, Dawoud T, Chaaban A, Rahman MU. Almazrouei R, et al. Among authors: alshamsi a. Oman Med J. 2022 May 31;37(3):e373. doi: 10.5001/omj.2022.17. eCollection 2022 May. Oman Med J. 2022. PMID: 35712376 Free PMC article.

2

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.

Al Shamsi A, Al Hassani N, Hamchou M, Almazrouei R, Mhanni A. Al Shamsi A, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1514. doi: 10.1002/mgg3.1514. Epub 2020 Sep 28. Mol Genet Genomic Med. 2020. PMID: 32986312 Free PMC article. Review.

3

Rare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review.

Yusuf A, Alhaj O, Aldaheri A, AlShamsi A, AlMarshoodi M, AlKindi F, Mohammed F, Almazrouei R. Yusuf A, et al. Among authors: alshamsi a. J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096231181856. doi: 10.1177/23247096231181856. J Investig Med High Impact Case Rep. 2023. PMID: 37341437 Free PMC article. Review.

4

Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review.

Takaleh A, Abunamous N, AlShamsi A, Alhassani N, Almazrouei R. Takaleh A, et al. Among authors: alshamsi a. JCEM Case Rep. 2024 Mar 4;2(3):luae028. doi: 10.1210/jcemcr/luae028. eCollection 2024 Mar. JCEM Case Rep. 2024. PMID: 38440129 Free PMC article.

5

Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature.

Abdelrahman HA, Akawi N, Al-Shamsi AM, Al-Gazali L, Ali BR. Abdelrahman HA, et al. J Pediatr Genet. 2022 May 20;13(3):215-222. doi: 10.1055/s-0042-1748018. eCollection 2024 Sep. J Pediatr Genet. 2022. PMID: 39086442 Free PMC article.

6

A Novel Missense Heterozygous Mutation in NKX2-5 Gene in a Family with Congenital Septal Defects and Cardiomyopathy: Case Series and Literature Review.

Zubaidi AA, Al-Shamsi A. Zubaidi AA, et al. J Pediatr Genet. 2024 Jul 10;13(4):308-314. doi: 10.1055/s-0044-1788252. eCollection 2024 Dec. J Pediatr Genet. 2024. PMID: 39502842

7

Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.

Elsayed O, Al-Shamsi A. Elsayed O, et al. Mol Genet Genomic Med. 2022 Nov;10(11):e2052. doi: 10.1002/mgg3.2052. Epub 2022 Sep 2. Mol Genet Genomic Med. 2022. PMID: 36056583 Free PMC article. Review.

8

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.

Komara M, Al-Shamsi AM, Ben-Salem S, Ali BR, Al-Gazali L. Komara M, et al. J Mol Neurosci. 2015 Nov;57(3):393-9. doi: 10.1007/s12031-015-0592-8. Epub 2015 Jun 9. J Mol Neurosci. 2015. PMID: 26055038

9

A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.

Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Zaabi N, Al-Shamsi A, Almansoori TM, Al-Gazali L, Al-Dirbashi OY, Al-Jasmi F, Ali BR. Mohamed FE, et al. J Mol Neurosci. 2020 Jan;70(1):45-55. doi: 10.1007/s12031-019-01398-6. Epub 2019 Aug 29. J Mol Neurosci. 2020. PMID: 31468281

10

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh S, Beyyumi E, Al Kaabi A, Hertecant J, Barakat D, Al Dhaheri NS, Al-Gazali L, Al Shamsi A. Saleh S, et al. Clin Genet. 2021 Nov;100(5):573-600. doi: 10.1111/cge.14044. Epub 2021 Aug 19. Clin Genet. 2021. PMID: 34374989

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

84 results

Search Page

Filters