E-LIB Suche - Ergebnisse für: Joubert, Madeleine

1

Biallelic loss-of-function variants in CACHD1 cause a novel..:

Scala, Marcello ; Khan, Kamal ; Beneteau, Claire...
Genetics in Medicine. 26 (2024) 4 - p. 101057 , 2024

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

2

Androgenetic/biparental mosaicism in a diploid mole-like co..:

Donzel, Marie ; Gaillot-Durand, Lucie ; Joubert, Madeleine...
Virchows Archiv. 483 (2023) 5 - p. 709-715 , 2023

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

3

Perinatal presentations of non‐immune hydrops fetalis due t..:

Ghesh, Leïla ; Désir, Julie ; Haye, Damien...
Clinical Genetics. 103 (2022) 5 - p. 560-565 , 2022

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

4

A Gardos channelopathy associated with nonimmune hydrops an..:

Ghesh, Leïla ; Besnard, Thomas ; Joubert, Madeleine...
Clinical Genetics. 102 (2022) 6 - p. 543-547 , 2022

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

5

Loss of FOCAD, operating via the SKI messenger RNA surveill..:

Moreno Traspas, Ricardo ; Teoh, Tze Shin ; Wong, Pui-Mun...
Nature Genetics. 54 (2022) 8 - p. 1214-1226 , 2022

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

6

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska M. ; Campbell, Ian M....
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 2958-2968 , 2022

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

7

Novel interstitial 2q12.3q13 microdeletion predisposes to d..:

Huynh, Minh-Tuan ; Gérard, Marion ; Ranguin, Kara...
neurogenetics. 22 (2021) 3 - p. 195-206 , 2021

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

8

The first twonon‐FinnishHYLS1variants: Expanding the phenot..:

Ghesh, Leïla ; Musquer, Marie Denis ; Devisme, Louise...
Clinical Genetics. 100 (2021) 4 - p. 462-467 , 2021

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

9

Novel interstitial 2q12.3q13 microdeletion predisposes to d..:

Huynh, Minh-Tuan ; Beneteau, Claire ; Marion, Gerard...
Molecular Genetics and Metabolism. 132 (2021) - p. S222-S224 , 2021

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

10

Syndrome microdélétionnel 12q21 : une région critique de 1,..:

Egloff, Matthieu ; Niclass, Tanguy ; Le Guyader, Gwenael...
Morphologie. 105 (2021) 350 - p. S15 , 2021

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

11

Structural abnormalities of chromosome 8 and fetoplacental ..:

Huynh, Minh-Tuan ; Riteau, Anne-Sophie ; Moradkhani, Kamran...
European Journal of Medical Genetics. 64 (2021) 1 - p. 104118 , 2021

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

12

Exome sequencing identifies the first genetic determinants ..:

Lecoquierre, François ; Brehin, Anne‐Claire ; Coutant, Sophie...
Human Mutation. 41 (2020) 5 - p. 926-933 , 2020

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

13

12q21 deletion syndrome: Narrowing the critical region down..:

Niclass, Tanguy ; Le Guyader, Gwenael ; Beneteau, Claire...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2133-2138 , 2020

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

14

New splicing pathogenic variant in EBP causing extreme fami..:

Pacault, Mathilde ; Vincent, Marie ; Besnard, Thomas...
European Journal of Human Genetics. 26 (2018) 12 - p. 1784-1790 , 2018

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

15

Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ an..:

Cardalliac, Claire ; Vincent, Marie ; Joubert, Madeleine.
Journal of Ultrasound in Medicine. 37 (2017) 2 - p. 531-534 , 2017

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