Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

104 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.
Alshamlani LK, Alsulaim DS, Alabbad RS, Alhoshan AA, Alkhoder JF, Alsaleh NS, Almannai M, Ababneh F, Algattan M, Alsini L, Alswaid AF, Eyaid WM, Al Mutairi F, Umair M, Alfadhel M. Alshamlani LK, et al. Among authors: al mutairi f. Appl Clin Genet. 2024 Oct 3;17:151-158. doi: 10.2147/TACG.S476350. eCollection 2024. Appl Clin Genet. 2024. PMID: 39377010 Free PMC article.
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.
Alfadhel M, Almuqbil M, Al Mutairi F, Umair M, Almannai M, Alghamdi M, Althiyab H, Albarakati R, Bashiri FA, Alshuaibi W, Ba-Armah D, Saleh MA, Al-Asmari A, Faqeih E, Altuwaijri W, Al-Rumayyan A, Balwi MA, Ababneh F, Alswaid AF, Eyaid WM, Almontashiri NAM, Alhashem A, Hundallah K, Bertoli-Avella A, Bauer P, Beetz C, Alrifai MT, Alfares A, Tabarki B. Alfadhel M, et al. Among authors: al mutairi f, al rumayyan a, al asmari a. Front Pediatr. 2021 May 13;9:633385. doi: 10.3389/fped.2021.633385. eCollection 2021. Front Pediatr. 2021. PMID: 34055681 Free PMC article.
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia.
Alfarsi A, Alfadhel M, Alameer S, Alhashem A, Tabarki B, Ababneh F, Al Fares A, Al Mutairi F. Alfarsi A, et al. Among authors: al fares a, al mutairi f. Mol Genet Metab Rep. 2021 Oct 23;29:100817. doi: 10.1016/j.ymgmr.2021.100817. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34745891 Free PMC article.
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.
Alfadhel M, Abadel B, Almaghthawi H, Umair M, Rahbeeni Z, Faqeih E, Almannai M, Alasmari A, Saleh M, Eyaid W, Alfares A, Al Mutairi F. Alfadhel M, et al. Among authors: al mutairi f. Front Genet. 2022 May 13;13:880464. doi: 10.3389/fgene.2022.880464. eCollection 2022. Front Genet. 2022. PMID: 35646072 Free PMC article.
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.
AlGhamdi A, Alrifai MT, Al Hammad AI, Al Mutairi F, Alswaid A, Eyaid W, Alfadhel M. AlGhamdi A, et al. Among authors: al hammad ai, al mutairi f. J Child Neurol. 2018 Oct;33(11):713-717. doi: 10.1177/0883073818786157. Epub 2018 Jul 17. J Child Neurol. 2018. PMID: 30014764
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
Nashabat M, Obaid A, Al Mutairi F, Saleh M, Elamin M, Ahmed H, Ababneh F, Eyaid W, Alswaid A, Alohali L, Faqeih E, Aljeraisy M, Hussein MA, Alasmari A, Alfadhel M. Nashabat M, et al. Among authors: al mutairi f. BMC Pediatr. 2019 Jun 13;19(1):195. doi: 10.1186/s12887-019-1571-y. BMC Pediatr. 2019. PMID: 31196016 Free PMC article.
The rate of secondary genomic findings in the Saudi population.
Aloraini T, Alsubaie L, Alasker S, Al Muitiri A, Alswaid A, Eyiad W, Al Mutairi F, Ababneh F, Alfadhel M, Alfares A. Aloraini T, et al. Among authors: al mutairi f, al muitiri a. Am J Med Genet A. 2022 Jan;188(1):83-88. doi: 10.1002/ajmg.a.62491. Epub 2021 Sep 13. Am J Med Genet A. 2022. PMID: 34515413
104 results