E-LIB Suche - Ergebnisse für: Moutton, Sébastien

1

A recurrent missense variant in the E3 ubiquitin ligase sub..:

Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric...
Genetics in Medicine. 26 (2024) 6 - p. 101119 , 2024

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

2

Craniofacial features of POLR3-related leukodystrophy cause..:

Mirchi, Amytice ; Guay, Simon-Pierre ; Tran, Luan T...
Journal of Medical Genetics. 60 (2023) 10 - p. 1026-1034 , 2023

Link: https://doi.org/10.1136/..

3

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

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

4

Prenatal diagnosis by trio exome sequencing in fetuses with..:

Tran Mau-Them, Frédéric ; Delanne, Julian ; Denommé-Pichon, Anne-Sophie...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

5

Combining globally search for a regular expression and prin..:

Tran Mau-Them, Frédéric ; Overs, Alexis ; Bruel, Ange-Line...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

6

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
Genetics in Medicine. 25 (2023) 4 - p. 100018 , 2023

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

7

Growth charts in DYRK1A syndrome:

Lanvin, Pierre‐Louis ; Goronflot, Thomas ; Isidor, Bertrand...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 9-16 , 2023

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

8

Microdeletions at 19p13.11p12 in five individuals with neur..:

Rieger, Melissa ; Moutton, Sébastien ; Verheyen, Sarah...
European Journal of Medical Genetics. 66 (2023) 1 - p. 104669 , 2023

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

9

Same performance of exome sequencing before and after fetal..:

Bourgon, Nicolas ; Garde, Aurore ; Bruel, Ange-Line...
European Journal of Human Genetics. 30 (2022) 8 - p. 967-975 , 2022

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

10

Publisher Correction: Discovery of a genetic module essenti..:

Szenker-Ravi, Emmanuelle ; Ott, Tim ; Khatoo, Muznah...
Nature Genetics. 54 (2022) 6 - p. 906-906 , 2022

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

11

Copy number variants calling from WES data through eXome hi..:

Tisserant, Emilie ; Vitobello, Antonio ; Callegarin, Davide...
Annals of Human Genetics. 86 (2022) 4 - p. 171-180 , 2022

Link: https://doi.org/10.1111/..

12

OMIXCARE: OMICS technologies solved about 33% of the patien..:

Colin, Estelle ; Duffourd, Yannis ; Tisserant, Emilie...
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022

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

13

Accelerated genome sequencing with controlled costs for inf..:

Denommé-Pichon, Anne-Sophie ; Vitobello, Antonio ; Olaso, Robert...
European Journal of Human Genetics. 30 (2021) 5 - p. 567-576 , 2021

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

14

The diagnostic rate of inherited metabolic disorders by exo..:

Delanne, Julian ; Bruel, Ange-Line ; Huet, Frédéric...
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100812 , 2021

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

15

Interest of exome sequencing trio‐like strategy based on po..:

Tran Mau‐Them, Frederic ; Duffourd, Yannis ; Vitobello, Antonio...
Molecular Genetics & Genomic Medicine. 9 (2021) 12 - p. , 2021

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