E-LIB Suche - Ergebnisse für: Tzur, Shay

1

Evaluation of an automated genome interpretation model for ..:

Meng, Linyan ; Attali, Ruben ; Talmy, Tomer...
Genetics in Medicine. 25 (2023) 6 - p. 100830 , 2023

2

Bi-allelic variants in IPO8 cause a connective tissue disor..:

Ziegler, Alban ; Duclaux-Loras, Rémi ; Revenu, Céline...
The American Journal of Human Genetics. 108 (2021) 6 - p. 1126-1137 , 2021

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

3

The Genomic History of the Bronze Age Southern Levant:

Agranat-Tamir, Lily ; Waldman, Shamam ; Martin, Mario A.S....
Cell. 181 (2020) 5 - p. 1146-1157.e11 , 2020

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

4

Germline variant inREXO2is a novel candidate gene in famili..:

Laitman, Yael ; Tzur, Shay ; Attali, Ruben..
Genetics Research. 102 (2020) - p. , 2020

Link: https://doi.org/10.1017/..

5

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, ..:

Shalata, Adel ; Edery, Michael ; Habib, Clair...
Neurochemical Research. 44 (2019) 10 - p. 2372-2384 , 2019

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

6

Variant in SCYL1 gene causes aberrant splicing in a family ..:

Shohet, Adi ; Cohen, Lior ; Haguel, Danielle...
European Journal of Human Genetics. 27 (2018) 2 - p. 263-268 , 2018

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

7

Big data analysis of human mitochondrial DNA substitution m..:

Levinstein Hallak, Keren ; Tzur, Shay ; Rosset, Saharon
BMC Genomics. 19 (2018) 1 - p. , 2018

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

8

A de novo GABRA2 missense mutation in severe early-onset ep..:

Orenstein, Naama ; Goldberg-Stern, Hadassa ; Straussberg, Rachel...
European Journal of Paediatric Neurology. 22 (2018) 3 - p. 516-524 , 2018

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

9

The genetic variation in the R1a clade among the Ashkenazi ..:

Behar, Doron M. ; Saag, Lauri ; Karmin, Monika...
Scientific Reports. 7 (2017) 1 - p. , 2017

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

10

Whole-exome sequencing reveals POC5 as a novel gene associa..:

Weisz Hubshman, Monika ; Broekman, Sanne ; van Wijk, Erwin...
Human Molecular Genetics. 27 (2017) 4 - p. 614-624 , 2017

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

11

Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa..:

Demir, Korcan ; Yıldız, Melek ; Bahat, Hilla...
The Journal of Clinical Endocrinology & Metabolism. 102 (2017) 12 - p. 4604-4614 , 2017

Link: https://doi.org/10.1210/..

12

A null variant in the apolipoprotein L3 gene is associated ..:

Skorecki, Karl L ; Lee, Jessica H ; Langefeld, Carl D...
Nephrology Dialysis Transplantation. 33 (2017) 2 - p. 323-330 , 2017

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

13

Exome sequencing identified a novelde novo OPA1mutation in ..:

COHEN, LIOR ; TZUR, SHAY ; GOLDENBERG-COHEN, NITZA...
Genetics Research. 98 (2016) - p. , 2016

Link: https://doi.org/10.1017/..

14

Exome sequencing identified mutations in CASK and MYBPC3 as..:

REINSTEIN, EYAL ; TZUR, SHAY ; BORMANS, CONCETTA.
Genetics Research. 98 (2016) - p. , 2016

Link: https://doi.org/10.1017/..

15

Intellectual disability and non-compaction cardiomyopathy w..:

Reinstein, Eyal ; Tzur, Shay ; Cohen, Rony..
European Journal of Human Genetics. 24 (2016) 11 - p. 1635-1638 , 2016

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