E-LIB Suche - Ergebnisse für: Zaki, Maha S

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/..

2

Expanding the phenotype of PPP1R21‐related neurodevelopment..:

Almannai, Mohammed ; Marafi, Dana ; Zaki, Maha S....
Clinical Genetics. 105 (2024) 6 - p. 620-629 , 2024

Link: https://doi.org/10.1111/..

3

Novel loss-of-function variants expand ABCC9-related intell..:

Efthymiou, Stephanie ; Scala, Marcello ; Nagaraj, Vini...
Brain. 147 (2024) 5 - p. 1822-1836 , 2024

Link: https://doi.org/10.1093/..

4

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S....
The American Journal of Human Genetics. 111 (2024) 1 - p. 200-210 , 2024

Link: https://doi.org/10.1016/..

5

Delineating the phenotype of PNPLA8‐related mitochondriopat..:

Abdel‐Hamid, Mohamed S. ; Abdel‐Salam, Ghada M. H. ; Abdel‐Ghafar, Sherif F..
Clinical Genetics. 105 (2023) 1 - p. 92-98 , 2023

Link: https://doi.org/10.1111/..

6

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Brain. 146 (2023) 12 - p. 5031-5043 , 2023

Link: https://doi.org/10.1093/..

7

A missense variant in EXOSC8 causes exon skipping and expan..:

Zaki, Maha S. ; Abdel-Ghafar, Sherif F. ; Abdel-Hamid, Mohamed S.
Journal of Human Genetics. 69 (2023) 2 - p. 79-84 , 2023

Link: https://doi.org/10.1038/..

8

SLC4A10 mutation causes a neurological disorder associated ..:

Fasham, James ; Huebner, Antje K ; Liebmann, Lutz...
Brain. 146 (2023) 11 - p. 4547-4561 , 2023

Link: https://doi.org/10.1093/..

9

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/..

10

Biallelic missense variants in COG3 cause a congenital diso..:

Duan, Ruizhi ; Marafi, Dana ; Xia, Zhi‐Jie...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1195-1205 , 2023

Link: https://doi.org/10.1002/..

11

Evaluating the association of biallelic OGDHL variants with..:

Lin, Sheng-Jia ; Vona, Barbara ; Lau, Tracy...
Genome Medicine. 15 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

12

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Genetics in Medicine. 25 (2023) 11 - p. 100938 , 2023

Link: https://doi.org/10.1016/..

13

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/..

14

Abnormal expression of lysosomal glycoproteins in patients ..:

Sabry, Sahar ; Eissa, Noura R. ; Zaki, Maha S.
BMC Research Notes. 16 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

15

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/..