E-LIB Suche - Ergebnisse für: Brischoux-Boucher, Elise

1

The spectrum of heart defects in theTRAF7-related multiple ..:

Pisan, Elise ; De Luca, Chiara ; Brancati, Francesco...
Proceedings of the National Academy of Sciences. 121 (2024) 12 - p. , 2024

Link: https://doi.org/10.1073/..

2

Molecular consequences of PQBP1 deficiency, involved in the..:

Courraud, Jérémie ; Engel, Camille ; Quartier, Angélique...
Molecular Psychiatry. 29 (2023) 2 - p. 287-296 , 2023

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

3

Congenital hydrocephalus: new Mendelian mutations and evide..:

Jacquemin, Valerie ; Versbraegen, Nassim ; Duerinckx, Sarah...
Human Genomics. 17 (2023) 1 - p. , 2023

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

4

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
Journal of Medical Genetics. 60 (2023) 12 - p. 1224-1234 , 2023

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

5

BRAT1–related disorders: phenotypic spectrum and phenotype-..:

Engel, Camille ; Valence, Stéphanie ; Delplancq, Geoffroy...
European Journal of Human Genetics. , 2023

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

6

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/..

7

Delineation of a KDM2B-related neurodevelopmental disorder ..:

van Jaarsveld, Richard H. ; Reilly, Jack ; Cornips, Marie-Claire...
Genetics in Medicine. 25 (2023) 1 - p. 49-62 , 2023

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

8

Rare pathogenic variants in WNK3 cause X-linked intellectua..:

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas...
Genetics in Medicine. 24 (2022) 9 - p. 1941-1951 , 2022

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

9

An HNRNPK-specific DNA methylation signature makes sense of..:

Choufani, Sanaa ; McNiven, Vanda ; Cytrynbaum, Cheryl...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1867-1884 , 2022

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

10

Further delineation of BCAP31-linked intellectual disabilit..:

Whalen, Sandra ; Shaw, Marie ; Mignot, Cyril...
European Journal of Human Genetics. 29 (2021) 9 - p. 1405-1417 , 2021

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

11

Using deep-neural-network-driven facial recognition to iden..:

Rouxel, Flavien ; Yauy, Kevin ; Boursier, Guilaine...
European Journal of Human Genetics. 30 (2021) 6 - p. 682-686 , 2021

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

12

Formation of keto-type ceramides in palmoplantar keratoderm..:

Pilz, Robert ; Opálka, Lukáš ; Majcher, Adam...
Human Molecular Genetics. 31 (2021) 7 - p. 1105-1114 , 2021

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

13

Parental mosaicism in Marfan and Ehlers–Danlos syndromes an..:

Chesneau, Bertrand ; Plancke, Aurélie ; Rolland, Guillaume...
European Journal of Human Genetics. 29 (2021) 5 - p. 771-779 , 2021

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

14

Clinical delineation, sex differences, and genotype–phenoty..:

Faundes, Víctor ; Goh, Stephanie ; Akilapa, Rhoda...
Genetics in Medicine. 23 (2021) 7 - p. 1202-1210 , 2021

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

15

A new case of KIAA0753-related variant of Jeune asphyxiatin..:

Faudi, Emilien ; Brischoux-Boucher, Elise ; Huber, Céline...
European Journal of Medical Genetics. 63 (2020) 4 - p. 103823 , 2020

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