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El-Hattab, Ayman W.
142  results:
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1

Biallelic NUDT2 variants defective in mRNA decapping cause ..:

Husain, Ralf A ; Jiao, Xinfu ; Hennings, J Christopher...
Brain.  147 (2023)  4 - p. 1197-1205 , 2023
Link: https://doi.org/10.1093/..
 
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2

Constructing and interpreting a large-scale variant effect ..:

Xie, Michael J. ; Cromie, Gareth A. ; Owens, Katherine...
PLOS Genetics.  19 (2023)  10 - p. e1010972 , 2023
Link: https://doi.org/10.1371/..
 
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3

Enhancing Equitable Access to Rare Disease Diagnosis and Tr..:

Adachi, Takeya ; El-Hattab, Ayman W. ; Jain, Ritu...
International Journal of Environmental Research and Public Health.  20 (2023)  6 - p. 4732 , 2023
Link: https://doi.org/10.3390/..
 
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4

Cerebral folate deficiency: A report of two affected siblin..:

Almahmoud, Rabah ; Mekki, Mohammed ; El-Hattab, Ayman W.
Molecular Genetics and Metabolism Reports.  35 (2023)  - p. 100975 , 2023
Link: https://doi.org/10.1016/..
 
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5

Perinatal Outcomes in Foetuses with Increased Nuchal Transl..:

Khair, Howaida ; Hilary, Serene ; Al Awar, Shamsa...
Journal of Clinical Medicine.  12 (2023)  19 - p. 6358 , 2023
Link: https://doi.org/10.3390/..
 
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6

Mitochondrial DNA maintenance defects: potential therapeuti..:

Almannai, Mohammed ; El-Hattab, Ayman W. ; Azamian, Mahshid S...
Molecular Genetics and Metabolism.  137 (2022)  1-2 - p. 40-48 , 2022
Link: https://doi.org/10.1016/..
 
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7

WIPI proteins: Biological functions and related syndromes:

Almannai, Mohammed ; Marafi, Dana ; El-Hattab, Ayman W.
Frontiers in Molecular Neuroscience.  15 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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8

Suleiman-El-Hattab syndrome: a histone modification disorde..:

Riedhammer, Korbinian M ; Burgemeister, Anna L ; Cantagrel, Vincent...
Human Molecular Genetics.  31 (2022)  18 - p. 3083-3094 , 2022
Link: https://doi.org/10.1093/..
 
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9

Nitric Oxide Deficiency in Mitochondrial Disorders: The Uti..:

Almannai, Mohammed ; El-Hattab, Ayman W.
Frontiers in Molecular Neuroscience.  14 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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10

Metabolic Seizures:

Almannai, Mohammed ; Al Mahmoud, Rabah A. ; Mekki, Mohammed.
Frontiers in Neurology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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11

The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An ..:

Ballout, Rami A. ; El-Hattab, Ayman W.
Genes.  12 (2021)  6 - p. 860 , 2021
Link: https://doi.org/10.3390/..
 
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12

Endothelial Dysfunction and the Effect of Arginine and Citr..:

Al Jasmi, Fatma ; Al Zaabi, Nuha ; Al-Thihli, Khalid...
Journal of Central Nervous System Disease.  12 (2020)  - p. 117957352090937 , 2020
Link: https://doi.org/10.1177/..
 
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13

Clinical trials in mitochondrial disorders, an update:

Almannai, Mohammed ; El-Hattab, Ayman W. ; Ali, May..
Molecular Genetics and Metabolism.  131 (2020)  1-2 - p. 1-13 , 2020
Link: https://doi.org/10.1016/..
 
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14

Clinician-centric diagnosis of rare genetic diseases: perfo..:

Segal, Michael M. ; George, Renee ; Waltman, Peter...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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15

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and ..:

Almannai, Mohammed ; Felemban, Rana ; Saleh, Mohammed A....
Pediatric Neurology.  96 (2019)  - p. 40-47 , 2019
Link: https://doi.org/10.1016/..
 
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