E-LIB Suche - Ergebnisse für: Planes, Marc

1

The phenotypic and genotypic spectrum of individuals with m..:

Furia, Francesca ; Levy, Amanda M. ; Theunis, Miel...
Clinical Genetics. , 2024

2

An autosomal-dominant childhood-onset disorder associated w..:

Mah-Som, Annelise Y. ; Daw, Jil ; Huynh, Diana...
The American Journal of Human Genetics. 110 (2023) 11 - p. 1959-1975 , 2023

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

3

Unexpected Inheritance Patterns in a Large Cohort of Patien..:

Gouronc, Aurélie ; Javey, Elodie ; Leuvrey, Anne-Sophie...
Human Mutation. 2023 (2023) - p. 1-7 , 2023

Link: https://doi.org/10.1155/..

4

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical a..:

Wojcik, Monica H. ; Srivastava, Siddharth ; Agrawal, Pankaj B....
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1900-1910 , 2023

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

5

A new case of Kaufman Oculocerebrofacial syndrome caused by..:

Couloigner, Loïc ; Planes, Marc ; Ka, Chandran...
Clinical Genetics. 103 (2022) 3 - p. 377-379 , 2022

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

6

Psychosocial Impact of Predictive Genetic Testing in Heredi..:

Bordet, Céline ; Brice, Sandrine ; Maupain, Carole...
Journal of Clinical Medicine. 9 (2020) 5 - p. 1365 , 2020

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

7

SCA27 is a cause of early-onset ataxia and developmental de..:

Planes, Marc ; Rooryck, Caroline ; Vuillaume, Marie-Laure...
European Journal of Paediatric Neurology. 19 (2015) 2 - p. 271-273 , 2015

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

8

A small de novo 16q24.1 duplication in a woman with severe ..:

Quéméner-Redon, Sylvia ; Bénech, Caroline ; Audebert-Bellanger, Séverine...
European Journal of Medical Genetics. 56 (2013) 4 - p. 211-215 , 2013

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

9

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2024

Link: https://univ-rennes.hal...

10

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...

11

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...

12

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...

13

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...

14

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...

15

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...