Mohammed Al-Owain
Overview
Explore the profile of Mohammed Al-Owain including associated specialties, affiliations and a list of published articles.
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91
Citations
2515
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Recent Articles
1.
Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, et al.
J Med Genet
. 2024 Aug;
61(10):992-998.
PMID: 39209426
Background: Weakness of facial, ocular and axial muscles is a common clinical presentation in congenital myopathies caused by pathogenic variants in genes encoding triad proteins. Abnormalities in triad structure and...
2.
Kaiyrzhanov R, Ortigoza-Escobar J, Stringer B, Ganieva M, Gowda V, Srinivasan V, et al.
Mov Disord
. 2024 Apr;
39(6):983-995.
PMID: 38581205
Background: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3...
3.
AlAbdi L, Shamseldin H, Khouj E, Helaby R, Aljamal B, Alqahtani M, et al.
Genome Med
. 2023 Dec;
15(1):114.
PMID: 38098057
Background: Long-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible by short-read WGS. However, its utility in autosomal recessive...
4.
Accogli A, Zaki M, Al-Owain M, Otaif M, Jackson A, Argilli E, et al.
Brain Commun
. 2023 Oct;
5(5):fcad222.
PMID: 37794925
encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in were shown to cause...
5.
Greene D, Pirri D, Frudd K, Sackey E, Al-Owain M, Giese A, et al.
Nat Med
. 2023 Mar;
29(3):679-688.
PMID: 36928819
The genetic etiologies of more than half of rare diseases remain unknown. Standardized genome sequencing and phenotyping of large patient cohorts provide an opportunity for discovering the unknown etiologies, but...
6.
Altassan R, Sulaiman R, Alfalah A, Alwagiat W, Megdad E, Alqasabi D, et al.
Eur J Med Genet
. 2022 Sep;
65(11):104602.
PMID: 36049607
Patients with certain inherited metabolic disorders (IMD) are at high risk for metabolic decompensation with exposure to infections. The COVID-19 pandemic has been particularly challenging for health care providers dealing...
7.
Shamseldin H, Shaheen R, Ewida N, Bubshait D, Alkuraya H, Almardawi E, et al.
Genet Med
. 2022 Apr;
24(4):966.
PMID: 35394428
No abstract available.
8.
Sulaiman R, Alali A, Hosaini S, Hussein M, Pasha F, Albogami M, et al.
Am J Emerg Med
. 2022 Mar;
55:138-142.
PMID: 35313229
Introduction: An increasing number of pediatric patients with inherited metabolic disorders are reaching adulthood. In addition, many patients are diagnosed for the first time in adult life due to improved...
9.
AlDalaan A, Ramzan K, Saleemi S, Weheba I, Alquait L, Abdelsayed A, et al.
Pulm Circ
. 2021 Aug;
11(3):20458940211032057.
PMID: 34377436
Pulmonary arterial hypertension (PAH), whether idiopathic PAH (IPAH), heritable PAH, or associated with other conditions, is a rare and potentially lethal disease characterized by progressive vascular changes. To date, there...
10.
Alfadhel M, Umair M, Almuzzaini B, Asiri A, Al Tuwaijri A, Alhamoudi K, et al.
Mol Syndromol
. 2021 Jun;
12(3):133-140.
PMID: 34177428
Ciliopathies constitute heterogeneous disorders that result from mutations in ciliary proteins. These proteins play an important role in the development of organs, physiology, and signaling pathways, and sequence variations in...