E-LIB Suche - Ergebnisse für: Gilbert-Dussardier, Brigitte

1

PLS3 missense variants affecting the actin-binding domains ..:

Petit, Florence ; Longoni, Mauro ; Wells, Julie...
The American Journal of Human Genetics. 110 (2023) 10 - p. 1787-1803 , 2023

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

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

Bi-allelic variants in INTS11 are associated with a complex..:

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello...
The American Journal of Human Genetics. 110 (2023) 5 - p. 774-789 , 2023

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

4

The Study of a 231 French Patient Cohort Significantly Exte..:

Mansard, Luke ; Baux, David ; Vaché, Christel...
International Journal of Molecular Sciences. 22 (2021) 24 - p. 13294 , 2021

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

5

Severe Phenotype in Patients with Large Deletions of NF1:

Pacot, Laurence ; Vidaud, Dominique ; Sabbagh, Audrey...
Cancers. 13 (2021) 12 - p. 2963 , 2021

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

6

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/..

7

Transmission d'un chromosome dicentrique suivi de cassures ..:

Egloff, Matthieu ; Foucart, Caroline ; Vequeau-Goua, Valérie...
Morphologie. 105 (2021) 350 - p. S6 , 2021

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

8

Should autism spectrum disorder be considered part of CHARG..:

Abadie, Véronique ; Hamiaux, Priscilla ; Ragot, Stéphanie...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

9

Sequence variations of ACVRL1 play a critical role in hepat..:

Giraud, Sophie ; Bardel, Claire ; Dupuis-Girod, Sophie...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

10

Comprehensive In Vivo Interrogation Reveals Phenotypic Impa..:

Kvon, Evgeny Z. ; Zhu, Yiwen ; Kelman, Guy...
Cell. 180 (2020) 6 - p. 1262-1271.e15 , 2020

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

11

Molecular investigation, using chromosomal microarray and w..:

Masson, Julie ; Demily, Caroline ; Chatron, Nicolas...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

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

12

Minoxidil versus placebo in the treatment of arterial wall ..:

Kassai, Behrouz ; Bouyé, Philippe ; Gilbert-Dussardier, Brigitte...
BMC Pediatrics. 19 (2019) 1 - p. , 2019

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

13

One NF1 Mutation may Conceal Another:

Pacot, Laurence ; Burin des Roziers, Cyril ; Laurendeau, Ingrid...
Genes. 10 (2019) 9 - p. 633 , 2019

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

14

A functional assay to study the pathogenicity of CHD7 prote..:

Brajadenta, Gara Samara ; Bilan, Frédéric ; Gilbert-Dussardier, Brigitte..
European Journal of Human Genetics. 27 (2019) 11 - p. 1683-1691 , 2019

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

15

Elucidating the genetic architecture of Adams-Oliver syndro..:

Meester, Josephina A.N. ; Sukalo, Maja ; Schröder, Kim C....
Human Mutation. 39 (2018) 9 - p. 1246-1261 , 2018

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