E-LIB Suche - Ergebnisse für: Azem, Abdussalam

1

SCAPER-Related Autosomal Recessive Retinitis Pigmentosa wit..:

Sharkia, Rajech ; Zalan, Abdelnaser ; Kessel, Amit...
Genes. 15 (2024) 6 - p. 791 , 2024

Link: https://doi.org/10.3390/..

2

PTRH2 Gene Variants: Recent Review of the Phenotypic Featur..:

Sharkia, Rajech ; Jain, Sahil ; Mahajnah, Muhammad...
Genes. 14 (2023) 5 - p. 1031 , 2023

Link: https://doi.org/10.3390/..

3

Editorial: A focus on chaperone clients:

Horovitz, Amnon ; Azem, Abdussalam
Frontiers in Molecular Biosciences. 10 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

Correction to: First-line exome sequencing in Palestinian a..:

Hengel, Holger ; Buchert, Rebecca ; Sturm, Marc...
European Journal of Human Genetics. 30 (2021) 2 - p. 248-248 , 2021

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

5

In Vivo Dissection of the Intrinsically Disordered Receptor..:

Günsel, Umut ; Paz, Eyal ; Gupta, Ruhita...
Journal of Molecular Biology. 432 (2020) 10 - p. 3326-3337 , 2020

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

6

Unraveling the genetic cause of hereditary ophthalmic disor..:

Mayer, Anja K. ; Balousha, Ghassan ; Sharkia, Rajech...
European Journal of Human Genetics. 28 (2020) 6 - p. 742-753 , 2020

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

7

Structural basis for active single and double ring complexe..:

Gomez-Llorente, Yacob ; Jebara, Fady ; Patra, Malay...
Nature Communications. 11 (2020) 1 - p. , 2020

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

8

Haploinsufficiency due to a novel ACO2 deletion causes mito..:

Neumann, Marie Anne-Catherine ; Grossmann, Dajana ; Schimpf-Linzenbold, Simone...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

9

Gene and Protein Expression in Subjects With a Nystagmus-As..:

Borovok, Natalia ; Weiss, Celeste ; Sharkia, Rajech...
Frontiers in Genetics. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

10

First-line exome sequencing in Palestinian and Israeli Arab..:

Hengel, Holger ; Buchert, Rebecca ; Sturm, Marc...
European Journal of Human Genetics. 28 (2020) 8 - p. 1034-1043 , 2020

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

11

Clinical, radiological, and genetic characteristics of 16 p..:

Sharkia, Rajech ; Wierenga, Klaas J. ; Kessel, Amit...
Journal of Inherited Metabolic Disease. 42 (2019) 2 - p. 264-275 , 2019

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

12

A novel biallelic loss‐of‐function mutation in TMCO1 gene c..:

Sharkia, Rajech ; Zalan, Abdelnaser ; Jabareen‐Masri, Azhar...
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1338-1345 , 2019

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

13

Deletion of Mgr2p Affects the Gating Behavior of the TIM23 ..:

Mirzalieva, Oygul ; Jeon, Shinhye ; Damri, Kevin...
Frontiers in Physiology. 9 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

14

A mutagenesis analysis of Tim50, the major receptor of the ..:

Dayan, Dana ; Bandel, May ; Günsel, Umut...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

15

Homozygous stop mutation in AHR causes autosomal recessive ..:

Mayer, Anja K ; Mahajnah, Muhammad ; Thomas, Mervyn G...
Brain. 142 (2019) 6 - p. 1528-1534 , 2019

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