All papers authored by Juliette Piard
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2022
Elsa Leitão 
,
Christopher Schröder,
Ilaria Parenti ,
Carine Dalle,
Agnès Rastetter,
Theresa Kühnel ,
Alma Kuechler,
Sabine Kaya,
Bénédicte Gérard,
Elise Schaefer,
Caroline Nava ,
Nathalie Drouot,
Camille Engel,
Juliette Piard ,
Bénédicte Duban-Bedu
and 22 other authors
Download from doi.org
,
Christopher Schröder,
Ilaria Parenti ,
Carine Dalle,
Agnès Rastetter,
Theresa Kühnel ,
Alma Kuechler,
Sabine Kaya,
Bénédicte Gérard,
Elise Schaefer,
Caroline Nava ,
Nathalie Drouot,
Camille Engel,
Juliette Piard ,
Bénédicte Duban-Bedu
and 22 other authors
Download from doi.org
2021
Clarisse Billon,
Stephane Zuily,
Laurent Savale,
Khaoula Zaafrane-Khachnaoui,
Denis Wahl,
André Vincentelli,
Annick Toutain,
Marie Vincent,
Susanne Thummler,
Elisabeth Sarrazin,
Salma Adham,
Natalia Hernandez Poblete,
Anne Legrand,
Michael Frank,
Chloé Quelin
and 29 other authors
Download from link.springer.com
Uirá Souto Melo,
Juliette Piard ,
Björn Fischer-Zirnsak,
Marius-Konstantin Klever,
Robert Schöpflin,
Martin Atta Mensah,
Manuel Holtgrewe,
Francine Arbez-Gindre,
Alain Martin,
Virginie Guigue,
Dominique Gaillard,
Emilie Landais,
Virginie Roze,
Valerie Kremer,
Rajeev Ramanah
and 6 other authors
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,
Björn Fischer-Zirnsak,
Marius-Konstantin Klever,
Robert Schöpflin,
Martin Atta Mensah,
Manuel Holtgrewe,
Francine Arbez-Gindre,
Alain Martin,
Virginie Guigue,
Dominique Gaillard,
Emilie Landais,
Virginie Roze,
Valerie Kremer,
Rajeev Ramanah
and 6 other authors
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Annie Laquerriere,
Dana Jaber,
Emanuela Abiusi,
Valerie Biancalana,
Philippe Latour,
Damien Sternberg,
Jérome Maluenda,
Yline Capri,
Alain Verloes,
Sandra Whalen,
Dan Mejlachowicz,
Bettina Bessieres,
Laurence Loeuillet,
Tania Attie-Bitach,
Jelena Martinovic
and 76 other authors
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
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2020
Frederic Tran Mau‐Them,
Aurore Garde ,
Jenny Cornaton,
Arthur Sorlin ,
Catherine Vincent‐Delorme,
Sébastien Moutton,
Claire Nicolas,
Annick Toutain,
Philippe Khau‐Van‐Kien,
Christine Juif,
Yann Trousselet,
Bertrand Isidor,
Fabienne Prieur,
David Geneviève,
Fanny Tessier
and 28 other authors
,
Jenny Cornaton,
Arthur Sorlin ,
Catherine Vincent‐Delorme,
Sébastien Moutton,
Claire Nicolas,
Annick Toutain,
Philippe Khau‐Van‐Kien,
Christine Juif,
Yann Trousselet,
Bertrand Isidor,
Fabienne Prieur,
David Geneviève,
Fanny Tessier
and 28 other authors
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
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Hui Liu,
Anna‐Gaëlle Giguet‐Valard,
Thomas Simonet,
Emmanuelle Szenker‐Ravi,
Laetitia Lambert,
Catherine Vincent‐Delorme,
Sophie Scheidecker,
Mélanie Fradin,
Fanny Morice‐Picard,
Sophie Naudion,
Viorica Ciorna‐Monferrato,
Estelle Colin,
Florence Fellmann,
Sophie Blesson,
Pierre‐Simon Jouk
and 34 other authors
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Juliette Piard ,
Matthieu Béreau ,
Wenshu XiangWei ,
Thomas Wirth ,
Daniel Amsallem,
Lauren Buisson,
Philippe Richard,
Nana Liu ,
Yuchen Xu ,
Scott J. Myers ,
Stephen F. Traynelis ,
Jameleddine Chelly,
Mathieu Anheim ,
Martine Raynaud ,
Lionel Van Maldergem
and 1 other authors
,
Matthieu Béreau ,
Wenshu XiangWei ,
Thomas Wirth ,
Daniel Amsallem,
Lauren Buisson,
Philippe Richard,
Nana Liu ,
Yuchen Xu ,
Scott J. Myers ,
Stephen F. Traynelis ,
Jameleddine Chelly,
Mathieu Anheim ,
Martine Raynaud ,
Lionel Van Maldergem
and 1 other authors
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus
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2019
Alexandre Janin ,
Valérie Chanavat,
Pierre‐Antoine Rollat‐Farnier,
Claire Bardel,
Karine Nguyen ,
Philippe Chevalier,
Jean‐Christophe Eicher,
Laurence Faivre ,
Juliette Piard ,
Emma Albert,
Severine Nony,
Gilles Millat
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,
Valérie Chanavat,
Pierre‐Antoine Rollat‐Farnier,
Claire Bardel,
Karine Nguyen ,
Philippe Chevalier,
Jean‐Christophe Eicher,
Laurence Faivre ,
Juliette Piard ,
Emma Albert,
Severine Nony,
Gilles Millat
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Eloïse Giabicani ,
Marjolaine Willems,
Virginie Steunou,
Sandra Chantot-Bastaraud,
Nathalie Thibaud,
Walid Abi Habib,
Salah Azzi,
Bich Lam,
Laurence Bérard,
Hélène Bony-Trifunovic,
Cécile Brachet,
Elise Brischoux-Boucher ,
Emmanuelle Caldagues,
Regis Coutant,
Marie-Laure Cuvelier
and 18 other authors
,
Marjolaine Willems,
Virginie Steunou,
Sandra Chantot-Bastaraud,
Nathalie Thibaud,
Walid Abi Habib,
Salah Azzi,
Bich Lam,
Laurence Bérard,
Hélène Bony-Trifunovic,
Cécile Brachet,
Elise Brischoux-Boucher ,
Emmanuelle Caldagues,
Regis Coutant,
Marie-Laure Cuvelier
and 18 other authors
Increasing knowledge in IGF1R defects: lessons from 35 new patients
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Ilse Meerschaut ,
Shana De Coninck,
Wouter Steyaert,
Angela Barnicoat,
Allan Bayat ,
Francesco Benedicenti,
Siren Berland ,
Edward M. Blair,
Jeroen Breckpot,
Anna de Burca,
Anne Destrée,
Sixto García-Miñaúr,
Andrew J. Green,
Bernadette C. Hanna,
Kathelijn Keymolen
and 28 other authors
,
Shana De Coninck,
Wouter Steyaert,
Angela Barnicoat,
Allan Bayat ,
Francesco Benedicenti,
Siren Berland ,
Edward M. Blair,
Jeroen Breckpot,
Anna de Burca,
Anne Destrée,
Sixto García-Miñaúr,
Andrew J. Green,
Bernadette C. Hanna,
Kathelijn Keymolen
and 28 other authors
A clinical scoring system for congenital contractural arachnodactyly
Download from www.nature.com
Juliette Piard ,
Lara Hawkes,
Mathieu Milh,
Laurent Villard,
Renato Borgatti,
Romina Romaniello,
Melanie Fradin,
Caroline Nava,
Oana Tarta Arsene,
Yline Capri,
Debbie Shears,
Delphine Héron,
John Taylor ,
Myrthe van den Born,
Alistair Pagnamenta
and 15 other authors
Upload
,
Lara Hawkes,
Mathieu Milh,
Laurent Villard,
Renato Borgatti,
Romina Romaniello,
Melanie Fradin,
Caroline Nava,
Oana Tarta Arsene,
Yline Capri,
Debbie Shears,
Delphine Héron,
John Taylor ,
Myrthe van den Born,
Alistair Pagnamenta
and 15 other authors
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Yline Capri,
Elisabetta Flex,
Oliver H. F. Krumbach,
Giovanna Carpentieri,
Serena Cecchetti,
Christina Lißewski,
Soheila Rezaei Adariani,
Denny Schanze,
Julia Brinkmann,
Juliette Piard ,
Francesca Pantaleoni,
Francesca R. Lepri,
Elaine Suk-Ying Goh,
Karen Chong,
Elliot Stieglitz
and 18 other authors
,
Francesca Pantaleoni,
Francesca R. Lepri,
Elaine Suk-Ying Goh,
Karen Chong,
Elliot Stieglitz
and 18 other authors
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
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Juliette Piard ,
Lara Hawkes,
Mathieu Milh,
Laurent Villard,
Renato Borgatti,
Romina Romaniello,
Melanie Fradin,
Caroline Nava,
Oana Tarta Arsene,
Yline Capri,
Debbie Shears,
Delphine Héron,
John Taylor ,
Myrthe van den Born,
Alistair Pagnamenta
and 15 other authors
Upload
,
Lara Hawkes,
Mathieu Milh,
Laurent Villard,
Renato Borgatti,
Romina Romaniello,
Melanie Fradin,
Caroline Nava,
Oana Tarta Arsene,
Yline Capri,
Debbie Shears,
Delphine Héron,
John Taylor ,
Myrthe van den Born,
Alistair Pagnamenta
and 15 other authors
Upload
Elisa Adele Colombo,
Hatice Mutlu-Albayrak,
Yousef Shafeghati,
Mine Balasar,
Juliette Piard ,
Davide Gentilini,
Anna Maria Di Blasio,
Cristina Gervasini,
Lionel Van Maldergem,
Lidia Larizza
Download from doi.org
,
Davide Gentilini,
Anna Maria Di Blasio,
Cristina Gervasini,
Lionel Van Maldergem,
Lidia Larizza
Download from doi.org
2018
Xia Wang,
Je Posey,
Ja Rosenfeld,
Fernando Scaglia,
Tm Mosher,
Anne Slavotinek,
Jing Zhang,
Magalie S. Leduc,
Francesco Vetrini,
Magdalena A. Walkiewicz,
Rui Xiao,
LaDonna Immken,
Pengfei Liu,
Dm Muzny,
Yunru Shao
and 30 other authors
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
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Lyse Ruaud ,
Gillian I. Rice ,
Christelle Cabrol,
Juliette Piard ,
Mathieu Rodero ,
Lien van Eyk,
Elise Boucher-Brischoux,
Alain Maertens de Noordhout,
Ricardo Maré,
Emmanuel Scalais,
Fernand Pauly,
François-Guillaume Debray,
William Dobyns ,
Carolina Uggenti,
Ji Woo Park
and 4 other authors
Download from www.research.manchester.ac.uk
,
Gillian I. Rice ,
Christelle Cabrol,
Juliette Piard ,
Mathieu Rodero ,
Lien van Eyk,
Elise Boucher-Brischoux,
Alain Maertens de Noordhout,
Ricardo Maré,
Emmanuel Scalais,
Fernand Pauly,
François-Guillaume Debray,
William Dobyns ,
Carolina Uggenti,
Ji Woo Park
and 4 other authors
Download from www.research.manchester.ac.uk
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