E-LIB Suche - Ergebnisse für: Issa, Mahmoud Y.

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

2

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/..

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/..

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/..

5

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/..

6

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/..

7

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/..

8

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/..

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/..

10

A founder mutation in PEX12 among Egyptian patients in pero..:

Zaki, Maha S. ; Issa, Mahmoud Y. ; Thomas, Manal M....
Neurological Sciences. 42 (2020) 7 - p. 2737-2745 , 2020

Link: https://doi.org/10.1007/..

11

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/..

12

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/..

13

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/..

14

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/..

15

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/..