E-LIB Suche - Ergebnisse für: Morsy, Heba A.

1

Biallelic NAA60 variants with impaired N-terminal acetylati..:

Chelban, Viorica ; Aksnes, Henriette ; Maroofian, Reza...
Nature Communications. 15 (2024) 1 - p. , 2024

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

2

De novo and inherited monoallelic variants in TUBA4A cause ..:

Benkirane, Mehdi ; Bonhomme, Marion ; Morsy, Heba...
Brain. , 2024

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

3

Neuromuscular disease genetics in under-represented populat..:

Wilson, Lindsay A ; Macken, William L ; Perry, Luke D...
Brain. 146 (2023) 12 - p. 5098-5109 , 2023

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

4

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
Genetics in Medicine. 25 (2023) 1 - p. 76-89 , 2023

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

5

The morbid genome of ciliopathies: an update:

Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour...
Genetics in Medicine. 24 (2022) 4 - p. 966 , 2022

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

6

Genome-wide variant calling in reanalysis of exome sequenci..:

de Boer, Elke ; Yaldiz, Burcu ; Denommé-Pichon, Anne-Sophie...
European Journal of Medical Genetics. 65 (2022) 1 - p. 104402 , 2022

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

7

Introducing The International Centre for Genomic Medicine i..:

Macken, William ; Vandrovcova, Jana ; Wilson, Lindsay...
Journal of the Neurological Sciences. 429 (2021) - p. 117765 , 2021

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

8

A familial PLCB4 mutation causing auriculocondylar syndrome..:

Nabil, Amira ; El Shafei, Sahar ; El Shakankiri, Nihal M....
European Journal of Medical Genetics. 63 (2020) 6 - p. 103917 , 2020

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

9

Bi-allelic GAD1 variants cause a neonatal onset syndromic d..:

Poulat, Anne-Lise ; de Bellescize, Julitta ; Sanlaville, Damien...
Brain. 143 (2020) 5 - p. 1447-1461 , 2020

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

10

The morbid genome of ciliopathies: an update:

Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour...
Genetics in Medicine. 22 (2020) 6 - p. 1051-1060 , 2020

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

11

The Association Between Interleukin 1 Beta Promoter Polymor..:

Nabil, Karim Mahmoud ; Elhady, Ghada Mohamed ; Morsy, Heba
Clinical Ophthalmology. 13 (2019) - p. 2217-2223 , 2019

Link: https://doi.org/10.2147/..

12

Clinical and genetic spectrum in 33 Egyptian families with ..:

Fassad, Mahmoud R. ; Shoman, Walaa I. ; Morsy, Heba...
Clinical Genetics. 97 (2019) 3 - p. 509-515 , 2019

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

13

Polymorphisms of base-excision repair genes and the hepatoc..:

Mattar, Manar-Aleslam M. ; Zekri, Abdel-Rahman N. ; Hussein, Nehal...
Gene. 675 (2018) - p. 62-68 , 2018

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

14

CYP1B1 and myocilin gene mutations in Egyptian patients wit..:

Fassad, Mahmoud R. ; Amin, Asmaa K. ; Morsy, Heba A....
Egyptian Journal of Medical Human Genetics. 18 (2017) 3 - p. 219-224 , 2017

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

15

Characterizing the morbid genome of ciliopathies:

Ciliopathy WorkingGroup ; Shaheen, Ranad ; Szymanska, Katarzyna...
Genome Biology. 17 (2016) 1 - p. , 2016

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