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

8 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Genotype-phenotype correlation in recessive DNAJB4 myopathy.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti CA, Aldeeri AA, Turan B, Pacheco-Orozco RA, Al-Maawali A, Al Hashmi N, Zamani AG, Göktaş E, Pekcan S, Çağlar HT, True H, Beggs AH, Weihl CC. Inoue M, et al. Among authors: aldeeri aa. Res Sq [Preprint]. 2024 Oct 14:rs.3.rs-4915388. doi: 10.21203/rs.3.rs-4915388/v1. Res Sq. 2024. Update in: Acta Neuropathol Commun. 2024 Oct 28;12(1):171. doi: 10.1186/s40478-024-01878-w PMID: 39483874 Free PMC article. Updated. Preprint.
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti CA, Aldeeri AA, Turan B, Pacheco-Orozco RA, Al-Maawali A, Al Hashmi N, Zamani AG, Göktaş E, Pekcan S, Çağlar HT, True H, Beggs AH, Weihl CC. Inoue M, et al. Among authors: aldeeri aa. Acta Neuropathol Commun. 2024 Oct 28;12(1):171. doi: 10.1186/s40478-024-01878-w. Acta Neuropathol Commun. 2024. PMID: 39468638 Free PMC article.
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.
Vanlerberghe C, Frénois F, Smol T, Jourdain AS, Escande F, Aït-Yahya E, Aldeeri AA, Yu TW, Cormier-Daire V, Ghoumid J, Jacob M, Newbury-Ecob R, Manouvrier S, Platon J, Sailer S, Brunelle P, Da Costa L, Petit F. Vanlerberghe C, et al. Among authors: aldeeri aa. Genet Med. 2024 Dec;26(12):101266. doi: 10.1016/j.gim.2024.101266. Epub 2024 Sep 10. Genet Med. 2024. PMID: 39268718
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS. Alazami AM, et al. Among authors: aldeeri aa. Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31. Cell Rep. 2015. PMID: 25558065 Free article.