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Alowain, Mohammed Abdulaziz
93
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Search for persons
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Online (93)
Mediatypes
Articles (Online) (90)
Bookchapter (Online) (1)
OpenAccess-fulltext (2)
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1
Knowledge, Attitude, and Practice of Organ Donation Among t..:
Almutairi, Ahmed H
;
Alhassan, SultanA
;
Alrajeh, SaudA
...
Cureus. , 2024
Link:
https://doi.org/10.7759/..
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2
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:
Martin, Carol-Anne
;
Sarlós, Kata
;
Logan, Clare V.
...
The American Journal of Human Genetics. 111 (2024) 5 - p. 996 , 2024
Link:
https://doi.org/10.1016/..
?
3
Clinical and Molecular Spectrum of Autosomal Recessive CA8‐..:
Kaiyrzhanov, Rauan
;
Ortigoza‐Escobar, Juan Darío
;
Stringer, Brett W.
...
Movement Disorders. 39 (2024) 6 - p. 983-995 , 2024
Link:
https://doi.org/10.1002/..
?
4
Clinical and molecular features of four families with CLDN1..:
Qudair, Ahmad
;
Hussein, Maged
;
Alowain, Mohammed
...
European Journal of Medical Genetics. 66 (2023) 12 - p. 104886 , 2023
Link:
https://doi.org/10.1016/..
?
5
Genetic association analysis of 77,539 genomes reveals rare..:
Greene, Daniel
;
Pirri, Daniela
;
Frudd, Karen
...
Nature Medicine. 29 (2023) 3 - p. 679-688 , 2023
Link:
https://doi.org/10.1038/..
?
6
Lunapark deficiency leads to an autosomal recessive neurode..:
Accogli, Andrea
;
Zaki, Maha S
;
Al-Owain, Mohammed
...
Brain Communications. , 2023
Link:
https://doi.org/10.1093/..
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7
Beyond the exome: utility of long-read whole genome sequenc..:
AlAbdi, Lama
;
Shamseldin, Hanan E.
;
Khouj, Ebtissal
...
Genome Medicine. 15 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
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8
ZNFX1 Deficiency in a Child with Interstitial Pneumonitis a..:
Al-Saud, Bandar
;
Al-Mogarri, Ibrahim
;
Alajlan, Huda
...
Journal of Clinical Immunology. 43 (2023) 7 - p. 1529-1532 , 2023
Link:
https://doi.org/10.1007/..
?
9
Novel biallelic variants expand the phenotype of NAA20‐rela..:
D'Onofrio, Gianluca
;
Cuccurullo, Claudia
;
Larsen, Silje Kathrine
...
Clinical Genetics. 104 (2023) 3 - p. 371-376 , 2023
Link:
https://doi.org/10.1111/..
?
10
Metabolomics in the Study of Human Mitochondrial Diseases:
, In:
Clinical Metabolomics Applications in Genetic Diseases
,
Sebaa, Rajaa
;
Harper, Mary-Ellen
;
Al-Tassan, Ruqaiah
.. - p. 147-171 , 2023
Link:
https://doi.org/10.1007/..
?
11
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consan..:
Aldosary, Mazhor
;
Alsagob, Maysoon
;
AlQudairy, Hanan
...
Cells. 11 (2022) 19 - p. 3154 , 2022
Link:
https://doi.org/10.3390/..
?
12
Emergency management of critically ill adult patients with ..:
Sulaiman, Raashda A.
;
Alali, Abdulaziz
;
Hosaini, Sulaiman
...
The American Journal of Emergency Medicine. 55 (2022) - p. 138-142 , 2022
Link:
https://doi.org/10.1016/..
?
13
COVID-19 in Unvaccinated patients with inherited metabolic ..:
Altassan, Ruqaiah
;
Sulaiman, Raashda A.
;
Alfalah, Abdullah
...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104602 , 2022
Link:
https://doi.org/10.1016/..
?
14
The genotypic and phenotypic spectrum of pycnodysostosis in..:
Mushiba, Aziza M.
;
FAQEIH E A Faqeih, EISSA
;
Saleh, Mohammed A.
...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2455-2463 , 2021
Link:
https://doi.org/10.1002/..
?
15
Genetic basis of pulmonary arterial hypertension: a prospec..:
Aldalaan, Abdullah M.
;
Ramzan, Khushnooda
;
Saleemi, Sarfraz A.
...
Pulmonary Circulation. 11 (2021) 3 - p. 1-8 , 2021
Link:
https://doi.org/10.1177/..
1-15