E-LIB Suche - Ergebnisse für: Reymond, Alexandre

1

Rare copy-number variants as modulators of common disease s..:

Auwerx, Chiara ; Jõeloo, Maarja ; Sadler, Marie C....
Genome Medicine. 16 (2024) 1 - p. , 2024

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

2

Dissecting the autism-associated 16p11.2 locus identifies m..:

Kretz, Perrine F. ; Wagner, Christel ; Mikhaleva, Anna...
Genome Biology. 24 (2023) 1 - p. , 2023

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

3

Chromosomal deletions on 16p11.2 encompassing SH2B1 are ass..:

Hanssen, Ruth ; Auwerx, Chiara ; Jõeloo, Maarja...
Cell Reports Medicine. 4 (2023) 8 - p. 101155 , 2023

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

4

Premature ovarian insufficiency is associated with global a..:

Di-Battista, Adriana ; Favilla, Bianca Pereira ; Zamariolli, Malú...
Epigenetics & Chromatin. 16 (2023) 1 - p. , 2023

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

5

Secondary structure of the human mitochondrial genome affec..:

Shamanskiy, Victor ; Mikhailova, Alina A. ; Tretiakov, Evgenii O....
BMC Biology. 21 (2023) 1 - p. , 2023

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

6

Biallelic variants in NSUN6 cause an autosomal recessive ne..:

Mattioli, Francesca ; Worpenberg, Lina ; Li, Cai-Tao...
Genetics in Medicine. 25 (2023) 9 - p. 100900 , 2023

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

7

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 ..:

Ibrahim, Nazia ; Naz, Shagufta ; Mattioli, Francesca...
Genes. 14 (2023) 3 - p. 707 , 2023

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

8

Exploiting the mediating role of the metabolome to unravel ..:

Auwerx, Chiara ; Sadler, Marie C ; Woh, Tristan...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

9

LGMDR1 with Prominent Limb–Joint Contractures and Inflammat..:

LR 18SP04-Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunis, Tunisia ; LR 18SP04-Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunis, Tunisia ; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland...
US Neurology. 19 (2023) 1 - p. 46 , 2023

Link: https://doi.org/10.17925..

10

The individual and global impact of copy-number variants on..:

Auwerx, Chiara ; Lepamets, Maarja ; Sadler, Marie C....
The American Journal of Human Genetics. 109 (2022) 4 - p. 647-668 , 2022

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

11

Correction: The use of polygenic risk scores in pre-implant..:

Forzano, Francesca ; Antonova, Olga ; Clarke, Angus...
European Journal of Human Genetics. 30 (2022) 11 - p. 1306-1306 , 2022

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

12

Correction to: Reply to Letter by Tellier et al., 'Scientif..:

Forzano, Francesca ; Antonova, Olga ; Clarke, Angus...
European Journal of Human Genetics. 31 (2022) 3 - p. 368-368 , 2022

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

13

A mitochondria-specific mutational signature of aging: incr..:

Mikhailova, Alina G ; Mikhailova, Alina A ; Ushakova, Kristina...
Nucleic Acids Research. 50 (2022) 18 - p. 10264-10277 , 2022

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

14

Correction: The use of polygenic risk scores in pre-implant..:

Forzano, Francesca ; Antonova, Olga ; Clarke, Angus...
European Journal of Human Genetics. 30 (2022) 5 - p. 628-628 , 2022

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

15

From pharmacogenetics to pharmaco-omics: Milestones and fut..:

Auwerx, Chiara ; Sadler, Marie C. ; Reymond, Alexandre.
Human Genetics and Genomics Advances. 3 (2022) 2 - p. 100100 , 2022

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