Researcher
Sacha Weber
Centre Hospitalier Universitaire de Caen
Statistics
4 papers found
All papers authored by Sacha Weber
Refreshing results…
2023
Sarah E. Sheppard 
,
Laura Bryant ,
Rochelle N. Wickramasekara ,
Courtney Vaccaro,
Brynn Robertson,
Jodi Hallgren ,
Jason Hulen,
Cynthia J. Watson,
Victor Faundes ,
Yannis Duffourd,
Pearl Lee ,
M. Celeste Simon ,
Xavier de la Cruz ,
Natália Padilla ,
Marco Flores-Mendez
and 105 other authors
,
Laura Bryant ,
Rochelle N. Wickramasekara ,
Courtney Vaccaro,
Brynn Robertson,
Jodi Hallgren ,
Jason Hulen,
Cynthia J. Watson,
Victor Faundes ,
Yannis Duffourd,
Pearl Lee ,
M. Celeste Simon ,
Xavier de la Cruz ,
Natália Padilla ,
Marco Flores-Mendez
and 105 other authors
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
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2022
Sacha Weber ,
Giulia Coarelli ,
Anna Heinzmann ,
Marie-Lorraine Monin ,
Nicolas Richard ,
Marion Gerard ,
Alexandra Durr ,
Vincent Huin
,
Giulia Coarelli ,
Anna Heinzmann ,
Marie-Lorraine Monin ,
Nicolas Richard ,
Marion Gerard ,
Alexandra Durr ,
Vincent Huin
TwoRFC1splicing variants in CANVAS
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Giuliana Giannuzzi,
Nicolas Chatron,
Katrin Mannik,
Chiara Auwerx,
Sylvain Pradervand,
Gilles Willemin,
Kendra Hoekzema,
Xander Nuttle,
Jacqueline Chrast,
Marie C. Sadler,
Eleonora Porcu,
Katrin Männik,
Damien Sanlaville,
Caroline Schluth-Bolard,
Cédric Le Caignec
and 21 other authors
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
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2019
Henri Margot ,
Guilaine Boursier,
Claire Duflos ,
Elodie Sanchez,
Jeanne Amiel,
Jean-Christophe Andrau,
Stéphanie Arpin,
Charlotte Caille,
Elise Brischoux-Boucher ,
Yline Capri,
Patrick Collignon,
Odile Boute,
Solène Conrad ,
Lydie Burglen ,
Valérie Cormier-Daire
and 46 other authors
,
Guilaine Boursier,
Claire Duflos ,
Elodie Sanchez,
Jeanne Amiel,
Jean-Christophe Andrau,
Stéphanie Arpin,
Charlotte Caille,
Elise Brischoux-Boucher ,
Yline Capri,
Patrick Collignon,
Odile Boute,
Solène Conrad ,
Lydie Burglen ,
Valérie Cormier-Daire
and 46 other authors
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
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