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X
Al-Owain, Mohammad
87  Ergebnisse:
Personensuche X
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1

Biallelic variants in SLC38A3 encoding a glutamine transpor..:

Marafi, Dana ; Fatih, Jawid M ; Kaiyrzhanov, Rauan...
Brain.  145 (2021)  3 - p. 909-924 , 2021
Link: https://doi.org/10.1093/..
 
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2

Twenty novel mutations in BCKDHA , BCKDHB and DBT genes in ..:

Imtiaz, Faiqa ; Al-Mostafa, Abeer ; Allam, Rabab...
Molecular Genetics and Metabolism Reports.  11 (2017)  - p. 17-23 , 2017
Link: https://doi.org/10.1016/..
 
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3

Loss of function mutation in LARP7, chaperone of 7SK ncRNA,..:

Alazami, Anas M. ; Al-Owain, Mohammad ; Alzahrani, Fatema...
Human Mutation.  33 (2012)  10 - p. 1429-1434 , 2012
Link: https://doi.org/10.1002/..
 
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4

A novel X-linked disorder with developmental delay and auti..:

Kaya, Namik ; Colak, Dilek ; Albakheet, Albandary...
Annals of Neurology.  71 (2011)  4 - p. 498-508 , 2011
Link: https://doi.org/10.1002/..
 
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5

ICF Syndrome in Saudi Arabia: Immunological, Cytogenetic an..:

Kaya, Namik ; Al-Muhsen, Saleh ; Al-Saud, Bandar...
Journal of Clinical Immunology.  31 (2010)  2 - p. 245-252 , 2010
Link: https://doi.org/10.1007/..
 
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6

Genome-wide gene expression profiling and mutation analysis..:

Kaya, Namik ; Imtiaz, Faiqa ; Colak, Dilek...
Genetics in Medicine.  10 (2008)  9 - p. 675-684 , 2008
Link: https://doi.org/10.1097/..
 
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7

Array comparative genomic hybridization (aCGH) reveals the ..:

Kaya, Namik ; Al-Owain, Mohammad ; AlBakheet, AlBandary...
European Journal of Medical Genetics.  51 (2008)  6 - p. 558-565 , 2008
Link: https://doi.org/10.1016/..
 
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8

Bi-allelic premature truncating variants in LTBP1 cause cut..:

Pottie, Lore ; Adamo, Christin S ; Beyens, Aude...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206382/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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9

Bi-allelic premature truncating variants in LTBP1 cause cut..:

Pottie, Lore ; Adamo, Christin S ; Beyens, Aude...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8715164/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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10

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Be..:

Alsaif, Hessa S ; Al-Owain, Mohammad ; Barrios-Llerena, Martin E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848991/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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11

Recessive Truncating Mutations in ALKBH8 Cause Intellectual..:

Vågbø, Cathrine Broberg ; Monies, Dorota ; Al-Owain, Mohammad..
American Journal of Human Genetics. 2019, 104 (6), 1202-1209..  , 2019
Link: http://hdl.handle.net/11..
 
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12

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Be..:

Alsaif, Hessa S ; Al-Owain, Mohammad ; Barrios-Llerena, Martin E...
https://linkinghub.elsevier.com/retrieve/pii/S000292971930360X.  , 2019
Link: http://hdl.handle.net/10..
 
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13

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a..:

Imtiaz, Faiqa ; Al-Mostafa, Abeer ; Allam, Rabab...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388912/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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14

Autozygome and high throughput confirmation of disease gene..:

Maddirevula, Sateesh ; Alzahrani, Fatema ; Al-Owain, Mohammed...
Genetics in Medicine.  21 (2019)  3 - p. 736-742 , 2019
Link: https://doi.org/10.1038/..
 
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15

The landscape of genetic diseases in Saudi Arabia based on ..:

Monies, Dorota ; Abouelhoda, Mohamed ; AlSayed, Moeenaldeen...
Human Genetics.  136 (2017)  8 - p. 921-939 , 2017
Link: https://doi.org/10.1007/..
 
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