Abdulrahman A Aldeeri
Overview
Explore the profile of Abdulrahman A Aldeeri including associated specialties, affiliations and a list of published articles.
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6
Citations
233
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Recent Articles
1.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti C, Aldeeri A, et al.
Res Sq
. 2024 Nov;
PMID: 39483874
Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role...
2.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti C, Aldeeri A, et al.
Acta Neuropathol Commun
. 2024 Oct;
12(1):171.
PMID: 39468638
Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role...
3.
Vanlerberghe C, Frenois F, Smol T, Jourdain A, Escande F, Ait-Yahya E, et al.
Genet Med
. 2024 Sep;
26(12):101266.
PMID: 39268718
Purpose: Diamond-Blackfan anemia syndrome (DBS) is a rare congenital disorder originally characterized by bone marrow failure with or without various congenital anomalies. At least 24 genes are implicated, the vast...
4.
Aldeeri A, Abu-El-Haija A
Am J Med Genet A
. 2022 Dec;
191(4):1070-1076.
PMID: 36574749
TCF4 gene encodes a class I helix-loop-helix transcription factor critical for the developing brain. Common polymorphisms in TCF4 and disruptive variants in the proximal region of the gene have been...
5.
Smith J, Aldeeri A, Elman S, Krier J, Merola J
JAAD Case Rep
. 2022 Feb;
21:103-105.
PMID: 35198712
No abstract available.
6.
AlAzami A, Patel N, Shamseldin H, Anazi S, Al-Dosari M, Alzahrani F, et al.
Cell Rep
. 2015 Jan;
10(2):148-61.
PMID: 25558065
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease...