E-LIB Suche - Ergebnisse für: Vidaud, Dominique

1

Droplet Digital PCR for Fast and Accurate Characterization ..:

Pacot, Laurence ; Ye, Manuela ; Nectoux, Juliette...
The Journal of Molecular Diagnostics. 26 (2024) 2 - p. 150-157 , 2024

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

2

Identification of potential common genetic modifiers of neu..:

Pacot, Laurence ; Sabbagh, Audrey ; Sohier, Pierre...
British Journal of Dermatology. , 2023

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

3

Non-invasive prenatal diagnosis of single gene disorders wi..:

Pacault, Mathilde ; Verebi, Camille ; Champion, Magali...
PLOS ONE. 18 (2023) 4 - p. e0280976 , 2023

Link: https://doi.org/10.1371/..

4

Neurofibromatosis type 1 mosaicism in patients with constit..:

Guerrini-Rousseau, Léa ; Pasmant, Eric ; Muleris, Martine...
Journal of Medical Genetics. 61 (2023) 2 - p. 158-162 , 2023

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

5

Comment on Intragenic inversions in NF1 gene as pathogenic ..:

Pacot, Laurence ; Chansavang, Albain ; Jacques, Sébastien...
European Journal of Human Genetics. 31 (2023) 4 - p. 380-382 , 2023

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

6

Prevalence of Endocrine Manifestations and GIST in 108 Syst..:

Dupuis, Hippolyte ; Chevalier, Benjamin ; Cardot-Bauters, Catherine...
Journal of the Endocrine Society. 7 (2023) 8 - p. , 2023

Link: https://doi.org/10.1210/..

7

Contribution of whole genome sequencing in the molecular di..:

Pacot, Laurence ; Pelletier, Valerie ; Chansavang, Albain...
Human Genetics. 142 (2022) 1 - p. 1-9 , 2022

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

8

Non‐invasive prenatal diagnosis of single gene disorders by..:

Pacault, Mathilde ; Verebi, Camille ; Lopez, Maureen...
BJOG: An International Journal of Obstetrics & Gynaecology. 129 (2022) 11 - p. 1879-1886 , 2022

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

9

HGG-40. NF1 mosaicism in a CMMRD-patient with a glioblastom:

Guerrini-Rousseau, Lea ; Cabaret, Odile ; Muleris, Martine...
Neuro-Oncology. 24 (2022) Supplement_1 - p. i69-i70 , 2022

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

10

SPiP: Splicing Prediction Pipeline, a machine learning tool..:

Leman, Raphaël ; Parfait, Béatrice ; Vidaud, Dominique...
Human Mutation. 43 (2022) 12 - p. 2308-2323 , 2022

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

11

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/..

12

Natural history of NF1 c.2970_2972del p.(Met992del): confir..:

Forde, Claire ; Burkitt-Wright, Emma ; Turnpenny, Peter D....
European Journal of Human Genetics. 30 (2021) 3 - p. 291-297 , 2021

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

13

Phase I study of vinblastine in combination with nilotinib ..:

Grill, Jacques ; Le Deley, Marie-Cécile ; Geoerger, Birgit...
Neuro-Oncology Advances. 2 (2020) 1 - p. , 2020

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

14

NF1-like optic pathway gliomas in children: clinical and mo..:

Pasmant, Eric ; Grill, Jacques ; Brugieres, Laurence...
Neuro-Oncology Advances. 2 (2019) Supplement_1 - p. i98-i106 , 2019

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

15

NF1 mutations identify molecular and clinical subtypes of l..:

Tlemsani, Camille ; Pécuchet, Nicolas ; Gruber, Aurelia...
Cancer Medicine. 8 (2019) 9 - p. 4330-4337 , 2019

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