E-LIB Suche - Ergebnisse für: Hasnaa Elbendary

1

THE LEUKODYSTROPHY SPECTRUM IN PEDIATRIC EGYPTIANS POPULATI..:

Elbendary, Hasnaa
IBRO Neuroscience Reports. 15 (2023) - p. S922 , 2023

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

2

In-depth characterization of neuroradiological findings in ..:

Ambrosino, Sara ; Elbendary, Hasnaa ; Lequin, Maarten...
NeuroImage: Clinical. 35 (2022) - p. 103118 , 2022

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

3

The clinical and genetic spectrum of inherited glycosylphos..:

Sidpra, Jai ; Sudhakar, Sniya ; Biswas, Asthik...
Brain. , 2024

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

4

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/..

5

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/..

6

Erratum to ' Taking action on climate change: Testimonials ..:

Aledo-Serrano, Angel ; Battaglia, Giulia ; Blenkinsop, Stephen...
Seizure: European Journal of Epilepsy. 111 (2023) - p. 164 , 2023

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

7

Spondyloenchondrodysplasia in five new patients: identifica..:

Elhossini, Rasha M. ; Elbendary, Hasnaa M. ; Rafat, Karima..
Molecular Genetics and Genomics. 298 (2023) 3 - p. 709-720 , 2023

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

8

Taking action on climate change: Testimonials and position ..:

Aledo-Serrano, Angel ; Battaglia, Giulia ; Blenkinsop, Stephen...
Seizure: European Journal of Epilepsy. 106 (2023) - p. 68-75 , 2023

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

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

First LIPA Mutational Analysis in Egyptian Patients Reveals..:

Elaraby, Nesma M. ; Galal, Eman Reda ; Abdel-Hamid, Mohamed...
Journal of Molecular Neuroscience. 73 (2023) 7-8 - p. 598-607 , 2023

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

11

Novel LSS variants in alopecia and intellectual disability ..:

Elbendary, Hasnaa M. ; Marafi, Dana ; Saad, Ahmed K....
Clinical Genetics. 104 (2023) 3 - p. 344-349 , 2023

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

12

Brain monoamine vesicular transport disease caused by homoz..:

Saida, Ken ; Maroofian, Reza ; Sengoku, Toru...
Genetics in Medicine. 25 (2023) 1 - p. 90-102 , 2023

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

13

El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B path..:

Almannai, Mohammed ; Marafi, Dana ; Abdel‐Salam, Ghada M. H....
Clinical Genetics. 101 (2022) 5-6 - p. 530-540 , 2022

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

14

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/..

15

RSRC1 loss-of-function variants cause mild to moderate auto..:

Maroofian, Reza ; Houlden, Henry ; Puffenberger, Erik...
Brain. 143 (2020) 4 - p. e31-e31 , 2020

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