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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

48 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Al-Fadhli FM, Afqi M, Sairafi MH, Almuntashri M, Alharby E, Alharbi G, Abdud Samad F, Hashmi JA, Zaytuni D, Bahashwan AA, Choi JH, Peake RWA, Beutler B, Almontashiri NAM. Al-Fadhli FM, et al. Among authors: almontashiri nam. Clin Genet. 2021 May;99(5):694-703. doi: 10.1111/cge.13930. Epub 2021 Feb 17. Clin Genet. 2021. PMID: 33495992
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS. Alkuraya H, et al. Among authors: almontashiri nam. Clin Genet. 2020 Mar;97(3):447-456. doi: 10.1111/cge.13676. Epub 2019 Dec 2. Clin Genet. 2020. PMID: 31730227
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E, Faqeih EA, Saleh M, Alameer S, Almuntashri M, Pastore A, Samman MA, Alnawfal AM, Hashem M, Zaytuni D, Alharbi G, Almannai M, Alasmari A, Mahmoud AA, Alwadei AH, Jad L, AlOtaibi A, Al-Hakami F, Eyaid W, Alkuraya FS, Alfadhel M, Peake RWA, Almontashiri NAM. Alharby E, et al. Among authors: almontashiri nam. Genet Med. 2020 Dec;22(12):2071-2080. doi: 10.1038/s41436-020-0919-x. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741967 Free article.
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.
Alhebbi H, Peer-Zada AA, Al-Hussaini AA, Algubaisi S, Albassami A, AlMasri N, Alrusayni Y, Alruzug IM, Alharby E, Samman MA, Ayoub SZ, Maddirevula S, Peake RWA, Alkuraya FS, Wali S, Almontashiri NAM. Alhebbi H, et al. Among authors: almontashiri nam. J Hum Genet. 2021 Feb;66(2):151-159. doi: 10.1038/s10038-020-0811-1. Epub 2020 Aug 6. J Hum Genet. 2021. PMID: 32759993
Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn.
Almannai M, Aldehaimi A, Peake RWA, Almontashiri NAM. Almannai M, et al. Among authors: almontashiri nam. Clin Chem. 2021 Jan 8;67(1):327-330. doi: 10.1093/clinchem/hvaa151. Clin Chem. 2021. PMID: 33418581 No abstract available.
48 results