E-LIB Suche - Ergebnisse für: Bassam Abu-Libdeh

1

A loss-of-function mutation in human Oxidation Resistance 1..:

Xiaolin Lin ; Wei Wang ; Mingyi Yang...
https://doi.org/10.1186/s13059-023-03037-1. , 2023

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

2

Replicative Stress Coincides with Impaired Nuclear DNA Dama..:

Liza Douiev ; Chaya Miller ; Guy Keller...
Molecular Pathology, Diagnostics, and Therapeutics. , 2022

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

3

RECON syndrome is a genome instability disorder caused by m..:

Bassam Abu-Libdeh ; Satpal S. Jhujh ; Srijita Dhar...
https://doi.org/10.1172/JCI147301. , 2022

Link: https://doaj.org/article..

4

Replicative Stress Coincides with Impaired Nuclear DNA Dama..:

Liza Douiev ; Chaya Miller ; Guy Keller...
https://www.mdpi.com/1422-0067/23/8/4149. , 2022

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

5

Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 D..:

Liza Douiev ; Chaya Miller ; Shmuel Ruppo...
Organelle Function. , 2021

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

6

Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 D..:

Liza Douiev ; Chaya Miller ; Shmuel Ruppo...
https://www.mdpi.com/2073-4409/10/2/452. , 2021

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

7

A novel mutation in TTC19 associated with isolated complex ..:

Laura eMelchionda ; Nadirah S Damseh ; Bassam Y Abu Libdeh...
http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00397/full. , 2014

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

8

GRID1/ GluD1 homozygous variants linked to intellectual dis..:

Ung, Dévina ; Tricoire, Ludovic ; Pietrancosta, Nicolas...
info:eu-repo/semantics/altIdentifier/doi/10.1101/2022.05.16.22274994. , 2024

Link: https://hal.science/hal-..

9

GRID1/ GluD1 homozygous variants linked to intellectual dis..:

Ung, Dévina ; Tricoire, Ludovic ; Pietrancosta, Nicolas...
info:eu-repo/semantics/altIdentifier/doi/10.1101/2022.05.16.22274994. , 2024

Link: https://hal.science/hal-..

10

SLC4A10 mutation causes a neurological disorder associated ..:

Fasham, James ; Huebner, Antje K ; Liebmann, Lutz...
10.1093/brain/awad235. , 2023

Link: http://hdl.handle.net/10..

11

A loss-of-function mutation in human Oxidation Resistance 1..:

Lin, Xiaolin ; Wang, Wei ; Yang, Mingyi...
Genome Biology. 2023 Sep 29;24(1):216. , 2023

Link: http://hdl.handle.net/10..

12

A loss-of-function mutation in human Oxidation Resistance 1..:

Lin, Xiaolin ; Wang, Wei ; Yang, Mingyi...
Genome Biology. 2023, 24 (1), .. , 2023

Link: https://hdl.handle.net/1..

13

SLC4A10 mutation causes a neurological disorder associated ..:

Fasham, James ; Huebner, Antje K ; Liebmann, Lutz...
https://discovery.ucl.ac.uk/id/eprint/10178829/1/awad235.pdf. , 2023

Link: https://discovery.ucl.ac..

14

RECON syndrome is a genome instability disorder caused by m..:

Abu-Libdeh, Bassam ; Jhujh, Satpal S ; Dhar, Srijita...
https://publications.aston.ac.uk/id/eprint/45211/1/B_Abu_Libdeh_et_al_RECON_syndrome_genome_instability_disorder_mutations_in_DNA_helicase_RECQL1.pdf. , 2022

Link: https://publications.ast..

15

RECON syndrome is a genome instability disorder caused by m..:

Abu-Libdeh, Bassam ; Jhujh, Satpal S ; Dhar, Srijita...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884905/. , 2022

Link: http://www.ncbi.nlm.nih...