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2 articles related to "Almass"

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Articles

Case Report

Published on 23 Dec 2024

Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings

in Intellectual Disabilities

Rawan Almass
Mustafa A. Salih
Albandary AlBakheet
Ahlam A. A. Hamed
Ali AlOdaib
Namik Kaya

Frontiers in Psychiatry

doi 10.3389/fpsyt.2024.1501238

2,878 views
4 citations

Original Research

Published on 18 Oct 2024

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4

in Intellectual Disabilities

Rawan Almass
Zuhair Al-Hassnan
Mazhor AlDosary
Aljouhra AlHargan
Hanan AlQudairy
Khaled Omar Alahmadi
Saif AlShahrani
Albandary AlBakheet
Mohammad A. Almuhaizea
Robert W. Taylor

Frontiers in Psychiatry

doi 10.3389/fpsyt.2024.1428175

2,380 views
2 citations