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Alowain, Mohammed Abdulaziz
93  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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