E-LIB Suche - Ergebnisse für: Attali, Ruben

1

P597: All for One Clinical Genomics Network: Linking Canadi..:

Price, E. Magda ; Gillespie, Meredith ; Chisholm, Caitlin...
Genetics in Medicine Open. 2 (2024) - p. 101503 , 2024

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

2

GNE myopathy: can homozygous asymptomatic subjects give a c..:

Mitrani-Rosenbaum, Stella ; Attali, Ruben ; Argov, Zohar
Neuromuscular Disorders. 33 (2023) 10 - p. 762-768 , 2023

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

3

Evaluation of an automated genome interpretation model for ..:

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

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

4

Functional analysis of a novel de novo variant in PPP5C ass..:

Fielder, Sara M. ; Rosenfeld, Jill A. ; Burrage, Lindsay C....
Molecular Genetics and Metabolism. 136 (2022) 1 - p. 65-73 , 2022

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

5

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/..

6

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/..

7

Epigenetic changes as a common trigger of muscle weakness i..:

Rokach, Ori ; Sekulic-Jablanovic, Marijana ; Voermans, Nicol...
Human Molecular Genetics. 24 (2015) 16 - p. 4636-4647 , 2015

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

8

Variable Myopathic Presentation in a Single Family with Nov..:

Attali, Ruben ; Aharoni, Sharon ; Treves, Susan...
PLoS ONE. 8 (2013) 7 - p. e69296 , 2013

Link: https://doi.org/10.1371/..

9

Early Neurodegeneration Progresses Independently of Microgl..:

Ausseil, Jérôme ; Desmaris, Nathalie ; Bigou, Stéphanie...
PLoS ONE. 3 (2008) 5 - p. e2296 , 2008

Link: https://doi.org/10.1371/..

10

3 Heparan sulfate oligosaccharides excreted in MPSIIIb pati..:

Ausseil, Jerome ; Attali, Ruben ; Desmaris, Nathalie...
Molecular Genetics and Metabolism. 92 (2007) 4 - p. 11-12 , 2007

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

11

Modelling of Fractured Granitic Geothermal Reservoirs: Use ..:

Chabani, Arezki ; Trullenque, Ghislain ; Parashar, Rishi...
info:eu-repo/grantAgreement/EC/H2020/792037/. , 2021

Link: https://zenodo.org/recor..

12

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

Ziegler, Alban ; Duclaux-Loras, Remi ; Revenu, Celine...
https://discovery.ucl.ac.uk/id/eprint/10146455/1/Maroofian_Bi-allelic%20variants%20in%20IPO8%20cause%20a%20connective%20tissue%20disorder%20associated%20with%20cardiovascular%20defects,%20skeletal%20abnormalities,%20and%20immune%20dysregulation_VoR.pdf. , 2021

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

13

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

Ziegler, Alban ; Duclaux-Loras, Rémi ; Revenu, Céline...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.020. , 2021

Link: https://hal.inrae.fr/hal..

14

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

Ziegler, Alban ; Duclaux-Loras, Rémi ; Revenu, Céline...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.020. , 2021

Link: https://hal.inrae.fr/hal..

15

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

Ziegler, Alban ; Duclaux-Loras, Rémi ; Revenu, Céline...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.020. , 2021

Link: https://hal.inrae.fr/hal..