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Issa, Mahmoud Y
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1

The clinical and genetic landscape of developmental and epi..:

Elkhateeb, Nour ; Issa, Mahmoud Y. ; Elbendary, Hasnaa M....
Clinical Genetics.  105 (2024)  5 - p. 510-522 , 2024
Link: https://doi.org/10.1111/..
 
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2

TMEM161B modulates radial glial scaffolding in neocortical ..:

Wang, Lu ; Heffner, Caleb ; Vong, Keng loi...
Proceedings of the National Academy of Sciences.  120 (2023)  4 - p. , 2023
Link: https://doi.org/10.1073/..
 
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3

Clinical and molecular spectrum of a large Egyptian cohort ..:

Zaki, Maha S. ; Sharaf‐Eldin, Wessam E. ; Rafat, Karima...
Clinical Genetics.  104 (2023)  2 - p. 238-244 , 2023
Link: https://doi.org/10.1111/..
 
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4

An atypical expression of core α-Dystroglycan and Laminin-α..:

Sabry, Sahar ; Issa, Mahmoud Y ; Abdel-Hamid, Mohamed S...
Molecular Biology Reports.  50 (2023)  8 - p. 6373-6379 , 2023
Link: https://doi.org/10.1007/..
 
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5

Refining the phenotypic spectrum of CCDC88A‐related PEHO‐li..:

Issa, Mahmoud Y. ; Hafez, Mona A. ; Mounir, Samir M....
American Journal of Medical Genetics Part A.  194 (2023)  2 - p. 226-232 , 2023
Link: https://doi.org/10.1002/..
 
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6

Variable predicted pathogenic mechanisms for novel MECP2 va..:

Sharaf-Eldin, Wessam E. ; Issa, Mahmoud Y. ; Zaki, Maha S...
Journal of Genetic Engineering and Biotechnology.  20 (2022)  1 - p. 44 , 2022
Link: https://doi.org/10.1186/..
 
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7

MLPA analysis for molecular diagnosis of spinal muscular at..:

Hassan, Heba A. ; Fahmy, Nagia A. ; El-Bagoury, Nagham M....
Egyptian Journal of Medical Human Genetics.  23 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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8

ASAH1‐related disorders: Description of 15 novel pediatric ..:

Mahmoud, Iman G. ; Elmonem, Mohamed A. ; Zaki, Maha S....
Clinical Genetics.  98 (2020)  6 - p. 598-605 , 2020
Link: https://doi.org/10.1111/..
 
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9

Prenatal presentation of Walker–Warburg syndrome with a POM..:

El-Dessouky, Sara H. ; Hosny, Heba ; Elarab, Ahmed Ezz.
Egyptian Journal of Medical Human Genetics.  21 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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10

Blepharophimosis‐ptosis‐intellectual disability syndrome: A..:

Zaki, Maha S. ; Otaify, Ghada A. ; Ismail, Samira...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 2857-2866 , 2020
Link: https://doi.org/10.1002/..
 
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11

Novel congenital disorder of O-linked glycosylation caused ..:

Zilmer, Monica ; Edmondson, Andrew C ; Khetarpal, Sumeet A...
Brain.  143 (2020)  4 - p. 1114-1126 , 2020
Link: https://doi.org/10.1093/..
 
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12

Prenatal delineation of a distinct lethal fetal syndrome ca..:

El‐Dessouky, Sara H. ; Issa, Mahmoud Y. ; Aboulghar, Mona M....
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 2867-2876 , 2020
Link: https://doi.org/10.1002/..
 
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13

Microcephalic osteodysplastic primordial dwarfism type II: ..:

Abdel‐Salam, Ghada M. H. ; Sayed, Inas S. M. ; Afifi, Hanan H....
American Journal of Medical Genetics Part A.  182 (2020)  6 - p. 1407-1420 , 2020
Link: https://doi.org/10.1002/..
 
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14

Mutation spectrum in the gene encoding methyl-CpG-binding p..:

Sharaf-Eldin, Wessam E. ; Soliman, Hala N. ; Abdel-Aziz, Nahla N....
Meta Gene.  24 (2020)  - p. 100620 , 2020
Link: https://doi.org/10.1016/..
 
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15

The potential impact of COMT gene variants on dopamine regu..:

Esmaiel, Nora N. ; Ashaat, Engy A. ; Mosaad, Rehab...
Behavioural Brain Research.  378 (2020)  - p. 112272 , 2020
Link: https://doi.org/10.1016/..
 
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