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Al‐Owain, Mohammed
161  results:
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1

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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2

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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3

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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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

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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6

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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7

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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8

Hematological findings associated with tubulin‐folding cofa..:

Al‐Bakheet, Albandary ; Tohary, Mohamed ; Khan, Sameena...
Clinical Genetics.  99 (2021)  5 - p. 724-731 , 2021
Link: https://doi.org/10.1111/..
 
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9

Systemic lupus erythematosus in a girl with PTEN variant an..:

Al-Mayouf, Sulaiman M. ; AlTassan, Ruqaiah S. ; AlOwain, Mohammed A.
Clinical Rheumatology.  39 (2020)  11 - p. 3511-3515 , 2020
Link: https://doi.org/10.1007/..
 
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10

Identification of TMC1 as a relatively common cause for non..:

Ramzan, Khushnooda ; Al‐Owain, Mohammed ; Al‐Numair, Nouf S....
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  183 (2019)  3 - p. 172-180 , 2019
Link: https://doi.org/10.1002/..
 
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11

Further delineation of Temtamy syndrome of corpus callosum ..:

Alrakaf, Laila ; Al‐Owain, Mohammed A. ; Busehail, Maryam...
American Journal of Medical Genetics Part A.  176 (2018)  3 - p. 715-721 , 2018
Link: https://doi.org/10.1002/..
 
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12

Spectrum of bone marrow pathology and hematological abnorma..:

Bakshi, Nasir A. ; Al‐Anzi, Talal ; Mohamed, Said Y....
American Journal of Medical Genetics Part A.  176 (2018)  3 - p. 687-691 , 2018
Link: https://doi.org/10.1002/..
 
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13

Warsaw breakage syndrome: Further clinical and genetic deli..:

Alkhunaizi, Ebba ; Shaheen, Ranad ; Bharti, Sanjay Kumar...
American Journal of Medical Genetics Part A.  176 (2018)  11 - p. 2404-2418 , 2018
Link: https://doi.org/10.1002/..
 
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14

Validation of Ion TorrentTM Inherited Disease Panel with th..:

Mustafa, Abeer E. ; Faquih, Tariq ; Baz, Batoul...
Genes.  9 (2018)  5 - p. 267 , 2018
Link: https://doi.org/10.3390/..
 
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15

The phenotype, genotype, and outcome of infantile-onset Pom..:

Al-Hassnan, Zuhair N. ; Khalifa, Ola A. ; Bubshait, Dalal K....
Molecular Genetics and Metabolism Reports.  15 (2018)  - p. 50-54 , 2018
Link: https://doi.org/10.1016/..
 
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