E-LIB Suche - Ergebnisse für: Boutry‐Kryza, Nadia

1

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

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

2

Complex mosaic CDKL5 deletion with two distinct mutant alle..:

Boutry‐Kryza, Nadia ; Ville, Dorothée ; Labalme, Audrey...
American Journal of Medical Genetics Part A. 164 (2014) 8 - p. 2025-2028 , 2014

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

3

Reduction of seizure frequency after epilepsy surgery in a ..:

Weckhuysen, Sarah ; Holmgren, Philip ; Hendrickx, Rik...
Epilepsia. 54 (2013) 5 - p. , 2013

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

4

A subset of genomic alterations detected in rolandic epilep..:

Dimassi, Sarra ; Labalme, Audrey ; Lesca, Gaetan...
Epilepsia. 55 (2013) 2 - p. 370-378 , 2013

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

5

An SCN2A mutation in a family with infantile seizures from ..:

Lauxmann, Stephan ; Boutry‐Kryza, Nadia ; Rivier, Clotilde...
Epilepsia. 54 (2013) 9 - p. , 2013

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

6

Epileptic encephalopathies of the Landau‐Kleffner and conti..:

Lesca, Gaetan ; Rudolf, Gabrielle ; Labalme, Audrey...
Epilepsia. 53 (2012) 9 - p. 1526-1538 , 2012

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

7

An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) ..:

Boutry‐Kryza, Nadia ; Labalme, Audrey ; Till, Marianne...
American Journal of Medical Genetics Part A. 158A (2011) 2 - p. 400-405 , 2011

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

8

Novel mutations in EPM2A and NHLRC1 widen the spectrum of L..:

Lesca, Gaetan ; Boutry‐Kryza, Nadia ; De Toffol, Bertrand...
Epilepsia. 51 (2010) 9 - p. 1691-1698 , 2010

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

9

Male breast cancer: No evidence for mosaic BRCA1 promoter m..:

Schwartz, Mathias ; Ibadioune, Sabrina ; Vacher, Sophie...
The Breast. 73 (2024) - p. 103620 , 2024

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

10

Overview of the Genetic Causes of Hereditary Breast and Ova..:

Bouras, Ahmed ; Guidara, Souhir ; Leone, Mélanie...
Cancers. 15 (2023) 13 - p. 3420 , 2023

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

11

Identification and Characterization of an Exonic Duplicatio..:

Bouras, Ahmed ; Lafaye, Cyril ; Leone, Melanie...
International Journal of Molecular Sciences. 23 (2022) 2 - p. 667 , 2022

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

12

A new hybrid record linkage process to make epidemiological..:

Jiao, Yue ; Lesueur, Fabienne ; Azencott, Chloé-Agathe...
BMC Medical Research Methodology. 21 (2021) 1 - p. , 2021

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

13

Identification and Characterization of New Alu Element Inse..:

Bouras, Ahmed ; Leone, Melanie ; Bonadona, Valerie...
Genes. 12 (2021) 11 - p. 1736 , 2021

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

14

Assessment of branch point prediction tools to predict phys..:

Leman, Raphaël ; Tubeuf, Hélène ; Raad, Sabine...
BMC Genomics. 21 (2020) 1 - p. , 2020

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

15

Novel diagnostic tool for prediction of variant spliceogeni..:

Houdayer, Claude ; Krieger, Sophie ; Martins, Alexandra...
Nucleic Acids Research. 48 (2019) 3 - p. 1600-1601 , 2019

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