Ahmad Qudair
Overview
Explore the profile of Ahmad Qudair including associated specialties, affiliations and a list of published articles.
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Articles
4
Citations
2
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0
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Recent Articles
1.
AlAbdi L, Maddirevula S, Aljamal B, Hamid H, Almulhim A, Hashem M, et al.
Med
. 2024 Nov;
6(3):100528.
PMID: 39504961
Background: Founder variants are ancestral variants shared by individuals who are not closely related. The large effect size of some of these variants in the context of Mendelian disorders offers...
2.
Qudair A, Hussein M, Alowain M, Al-Hassnan Z, Alfaifi A, Alfalah A, et al.
Eur J Med Genet
. 2023 Nov;
66(12):104886.
PMID: 37984702
Biallelic pathogenic variants in CLDN10 cause the very rare and distinct multiplex epithelium dysfunction manifested by hypohidrosis and electrolyte imbalance (HELIX) syndrome. HELIX patients often present with heat intolerance and...
3.
Altassan R, Qudair A, Alokaili R, Alhasan K, Faqeih E, Alhashem A, et al.
Am J Med Genet A
. 2022 Jul;
188(10):2932-2940.
PMID: 35861185
Pathogenic variants in GEMIN4 have recently been linked to an inherited autosomal recessive neurodevelopmental disorder characterized with microcephaly, cataracts, and renal abnormalities (NEDMCR syndrome). This report provides a retrospective review...
4.
AlMidani E, Qudair A, Khadawardi E, Alshareef T, Shoura S, AlObari R, et al.
Int J Pediatr Adolesc Med
. 2019 Feb;
4(3):115-118.
PMID: 30805513
Introduction: Discharge summaries are essential documents to provide a long-lasting record of a patient's visit to a hospital. It provides an effective method of communication between various hospital services and...