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Al-Gazali, Lihadh
242  results:
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1

Spectrum of genetic disorders and gene variants in the Unit..:

Bizzari, Sami ; Nair, Pratibha ; Hana, Sayeeda...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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2

Entwined African and Asian genetic roots of medieval people..:

Brielle, Esther S. ; Fleisher, Jeffrey ; Wynne-Jones, Stephanie...
Nature.  615 (2023)  7954 - p. 866-873 , 2023
Link: https://doi.org/10.1038/..
 
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3

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mic..:

Al-Amri, Ahmed H. ; Armstrong, Paul ; Amici, Mascia...
Biological Psychiatry.  92 (2022)  4 - p. 323-334 , 2022
Link: https://doi.org/10.1016/..
 
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4

Author Correction: Mutations in PYCR1 cause cutis laxa with..:

Reversade, Bruno ; Escande-Beillard, Nathalie ; Dimopoulou, Aikaterini...
Nature Genetics.  54 (2022)  2 - p. 213-213 , 2022
Link: https://doi.org/10.1038/..
 
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5

Combining exome/genome sequencing with data repository anal..:

Bertoli-Avella, Aida M. ; Kandaswamy, Krishna K. ; Khan, Suliman...
Genetics in Medicine.  23 (2021)  8 - p. 1551-1568 , 2021
Link: https://doi.org/10.1038/..
 
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6

Correction: DYRK1A-related intellectual disability: a syndr..:

Blackburn, Alexandria T.M. ; Bekheirnia, Nasim ; Uma, Vanessa C....
Genetics in Medicine.  22 (2020)  4 - p. 821 , 2020
Link: https://doi.org/10.1038/..
 
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7

Correction: A restricted spectrum of missense KMT2D variant..:

Cuvertino, Sara ; Hartill, Verity ; Colyer, Alice...
Genetics in Medicine.  22 (2020)  5 - p. 980 , 2020
Link: https://doi.org/10.1038/..
 
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8

Life-threatening arrhythmias with autosomal recessive TECRL..:

Webster, Gregory ; Aburawi, Elhadi H ; Chaix, Marie A...
EP Europace.  23 (2020)  5 - p. 781-788 , 2020
Link: https://doi.org/10.1093/..
 
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9

Phosphoglucomutase-1 deficiency: Early presentation, metabo..:

Conte, Federica ; Morava, Eva ; Bakar, Nurulamin Abu...
Molecular Genetics and Metabolism.  131 (2020)  1-2 - p. 135-146 , 2020
Link: https://doi.org/10.1016/..
 
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10

A restricted spectrum of missense KMT2D variants cause a mu..:

Cuvertino, Sara ; Hartill, Verity ; Colyer, Alice...
Genetics in Medicine.  22 (2020)  5 - p. 867-877 , 2020
Link: https://doi.org/10.1038/..
 
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11

Regulation of human cerebral cortical development by EXOC7 ..:

Coulter, Michael E. ; Musaev, Damir ; DeGennaro, Ellen M....
Genetics in Medicine.  22 (2020)  6 - p. 1040-1050 , 2020
Link: https://doi.org/10.1038/..
 
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12

The pharmacological chaperone N-n-butyl-deoxygalactonojirim..:

Mohamed, Fedah E. ; Al Sorkhy, Mohammad ; Ghattas, Mohammad A....
Human Genetics.  139 (2020)  5 - p. 657-673 , 2020
Link: https://doi.org/10.1007/..
 
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13

A Novel Homozygous Missense Variant in the NAGA Gene with E..:

Mohamed, Fedah E. ; Al Sorkhy, Mohammad ; Ghattas, Mohammad A....
Journal of Molecular Neuroscience.  70 (2019)  1 - p. 45-55 , 2019
Link: https://doi.org/10.1007/..
 
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14

De novo and inherited TCF20 pathogenic variants are associa..:

The DDD study ; Vetrini, Francesco ; McKee, Shane...
Genome Medicine.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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15

VKORC1 variants as significant predictors of warfarin dose ..:

Al-Mahayri, Zeina N ; Al Jaibeji, Hayat S ; Saab, Yolande...
Pharmacogenomics and Personalized Medicine.  12 (2019)  - p. 47-57 , 2019
Link: https://doi.org/10.2147/..
 
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