E-LIB Suche - Ergebnisse für: Frénois, Frédéric

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

Performance of meta-predictors for the classification of ME..:

Smol, Thomas ; Frénois, Frédéric ; Manouvrier-Hanu, Sylvie..
European Journal of Medical Genetics. 65 (2022) 1 - p. 104398 , 2022

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

3

The EGF Domains of MUC4 Oncomucin Mediate HER2 Binding Affi..:

Stoup, Nicolas ; Liberelle, Maxime ; Schulz, Céline...
Cancers. 13 (2021) 22 - p. 5746 , 2021

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

4

Mandibular‐pelvic‐patellar syndrome is a novelPITX1‐related..:

Morel, Godelieve ; Duhamel, Céline ; Boussion, Simon...
Human Mutation. 41 (2020) 9 - p. 1499-1506 , 2020

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

5

A Novel Rare Missense Variation of the NOD2 Gene: Evidences..:

Frade-Proud'Hon-Clerc, Sara ; Smol, Thomas ; Frenois, Frédéric...
International Journal of Molecular Sciences. 20 (2019) 4 - p. 835 , 2019

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

6

WNT10B variants in split hand/foot malformation: Report of ..:

Brunelle, Perrine ; Jourdain, Anne‐Sophie ; Escande, Fabienne...
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1351-1356 , 2019

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

7

Holt-Oram syndrome: clinical and molecular description of 7..:

Vanlerberghe, Clémence ; Jourdain, Anne-Sophie ; Ghoumid, Jamal...
European Journal of Human Genetics. 27 (2018) 3 - p. 360-368 , 2018

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

8

Galectin-3 is a non-classic RNA binding protein that stabil..:

Coppin, Lucie ; Vincent, Audrey ; Frénois, Frédéric...
Scientific Reports. 7 (2017) 1 - p. , 2017

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

9

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-r..:

Ghoumid, Jamal ; Petit, Florence ; Boute-Benejean, Odile...
European Journal of Human Genetics. 25 (2017) 8 - p. 1011-1014 , 2017

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

10

Multiple HABP2 variants in familial papillary thyroid carci..:

Kern, Benjamin ; Coppin, Lucie ; Romanet, Pauline...
European Journal of Medical Genetics. 60 (2017) 3 - p. 178-184 , 2017

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

11

Blepharocheilodontic syndrome is a CDH1 pathway–related dis..:

Ghoumid, Jamal ; Stichelbout, Morgane ; Jourdain, Anne-Sophie...
Genetics in Medicine. 19 (2017) 9 - p. 1013-1021 , 2017

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

12

The Subjective Experience of Patients Diagnosed with Heredi..:

Geerts, Laura ; Fantini‐Hauwel, Carole ; Brugallé, Elodie...
Journal of Genetic Counseling. 26 (2016) 3 - p. 612-619 , 2016

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

13

Membrane-bound mucin modular domains: From structure to fun..:

Jonckheere, Nicolas ; Skrypek, Nicolas ; Frénois, Frédéric.
Biochimie. 95 (2013) 6 - p. 1077-1086 , 2013

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

14

The Mucin MUC4 and Its Membrane Partner ErbB2 Regulate Biol..:

Jonckheere, Nicolas ; Skrypek, Nicolas ; Merlin, Johann...
PLoS ONE. 7 (2012) 2 - p. e32232 , 2012

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

15

Structural activation of the transcriptional repressor EthR..:

Carette, Xavier ; Blondiaux, Nicolas ; Willery, Eve...
Nucleic Acids Research. 40 (2011) 7 - p. 3018-3030 , 2011

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