E-LIB Suche - Ergebnisse für: Lecoquierre, François

1

Model matchmaking via the Solve-RD Rare Disease Models & Me..:

Ellwanger, Kornelia ; Brill, Julie A. ; de Boer, Elke...
Lab Animal. 53 (2024) 7 - p. 161-165 , 2024

2

Variants in ZFX are associated with an X-linked neurodevelo..:

Shepherdson, James L. ; Hutchison, Katie ; Don, Dilan Wellalage...
The American Journal of Human Genetics. 111 (2024) 3 - p. 487-508 , 2024

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

3

Assessment of parental mosaicism rates in neurodevelopmenta..:

Lecoquierre, François ; Cassinari, Kévin ; Drouot, Nathalie...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

4

Penetrance, variable expressivity and monogenic neurodevelo..:

de Masfrand, Servane ; Cogné, Benjamin ; Nizon, Mathilde...
European Journal of Medical Genetics. 69 (2024) - p. 104932 , 2024

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

5

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/..

6

Molecular and Phenotypic Characterization of theRORB-Relate..:

Gokce-Samar, Zeynep ; Vetro, Annalisa ; De Bellescize, Julitta...
Neurology. 102 (2024) 2 - p. , 2024

Link: https://doi.org/10.1212/..

7

High diagnostic potential of short and long read genome seq..:

Lecoquierre, François ; Quenez, Olivier ; Fourneaux, Steeve...
Human Genetics. 142 (2023) 6 - p. 773-783 , 2023

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

8

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine. 25 (2023) 1 - p. 135-142 , 2023

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

9

Evaluation of Analytical and Clinical Performance and Usefu..:

Moisan, Alice ; Soares, Anaïs ; De Oliveira, Fabienne...
Viruses. 15 (2023) 5 - p. 1115 , 2023

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

10

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
European Journal of Human Genetics. , 2023

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

11

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal...
The American Journal of Human Genetics. 110 (2023) 6 - p. 963-978 , 2023

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

12

Heterozygous variants inPRPF8are associated with neurodevel..:

O'Grady, Lauren ; Schrier Vergano, Samantha A. ; Hoffman, Trevor L....
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2750-2759 , 2022

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

13

Genome Alert!: A standardized procedure for genomic variant..:

Yauy, Kevin ; Lecoquierre, François ; Baert-Desurmont, Stéphanie...
Genetics in Medicine. 24 (2022) 6 - p. 1316-1327 , 2022

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

14

A postzygotic de novo NCDN mutation identified in a sporadi..:

Nicolas, Gaël ; Sévigny, Myriam ; Lecoquierre, François...
Acta Neuropathologica Communications. 10 (2022) 1 - p. , 2022

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

15

Contribution of DNA methylation profiling to the reclassifi..:

Coursimault, Juliette ; Goldenberg, Alice ; Nicolas, Gaël...
European Journal of Medical Genetics. 65 (2022) 9 - p. 104556 , 2022

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