Papers authored by Valérie Cormier-Daire
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2013
Elin Enervald,
E. Enervald (Elin),
Likun Du 
,
L. Du (Likun),
Torkild Visnes ,
T. Visnes (Torkild),
Andrea Björkman,
A. Björkman (Andrea),
Emma Lindgren,
E. Lindgren (Emma),
Josephine Wincent,
J. Wincent (Josephine),
Guntram Borck,
H. Göbel (Hartmut),
Laurence Colleaux
and 20 other authors
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,
L. Du (Likun),
Torkild Visnes ,
T. Visnes (Torkild),
Andrea Björkman,
A. Björkman (Andrea),
Emma Lindgren,
E. Lindgren (Emma),
Josephine Wincent,
J. Wincent (Josephine),
Guntram Borck,
H. Göbel (Hartmut),
Laurence Colleaux
and 20 other authors
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Luitgard M. Graul-Neumann,
Alexandra Deichsel,
Ulrike Wille,
Naseebullah Kakar,
Randi Koll,
Christian Bassir,
Jamil Ahmad,
Valerie Cormier-Daire ,
Stefan Mundlos,
Christian Kubisch,
Guntram Borck ,
Eva Klopocki,
Thomas D. Mueller,
Sandra C. Doelken,
Petra Seemann
,
Stefan Mundlos,
Christian Kubisch,
Guntram Borck ,
Eva Klopocki,
Thomas D. Mueller,
Sandra C. Doelken,
Petra Seemann
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
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Caroline Michot ,
Carole Corsini,
Damien Sanlaville,
Clarisse Baumann,
Annick Toutain,
Nicole Philip,
Tiffany Busa,
Muriel Holder,
Laurence Faivre,
Sylvie Odent,
Marie-Ange Delrue,
Marianne Till,
Marie-Line Jacquemont,
Marie-Pierre Cordier,
Alice Goldenberg
and 30 other authors
,
Carole Corsini,
Damien Sanlaville,
Clarisse Baumann,
Annick Toutain,
Nicole Philip,
Tiffany Busa,
Muriel Holder,
Laurence Faivre,
Sylvie Odent,
Marie-Ange Delrue,
Marianne Till,
Marie-Line Jacquemont,
Marie-Pierre Cordier,
Alice Goldenberg
and 30 other authors
Finger creases lend a hand in Kabuki syndrome.
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Jean-Benoı̂t Courcet,
Laurence Faivre ,
Caroline Michot ,
Antoine Burguet,
Stéphanie Perez-Martin,
Eudeline Alix,
Jeanne Amiel ,
Clarisse Baumann,
Marie Ange Delrue,
Marie-Pierre Cordier,
Brigitte Gilbert-Dussardier,
Valérie Cormier-Daire ,
Alice Goldenberg,
Marie-Line Jacquemont,
Aurélia Jaquette
and 26 other authors
,
Caroline Michot ,
Antoine Burguet,
Stéphanie Perez-Martin,
Eudeline Alix,
Jeanne Amiel ,
Clarisse Baumann,
Marie Ange Delrue,
Marie-Pierre Cordier,
Brigitte Gilbert-Dussardier,
Valérie Cormier-Daire ,
Alice Goldenberg,
Marie-Line Jacquemont,
Aurélia Jaquette
and 26 other authors
Clinical and molecular spectrum of renal malformations in Kabuki syndrome
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Cybel Mehawej,
Jean-Benoı̂t Courcet,
Geneviève Baujat,
Richard Mouy,
Marion Gérard,
Isabelle Landru,
Pierre Quartier ,
Morgane Gosselin,
Philippe Koehrer,
Christiane Mousson,
Sylvain Breton,
Martine Le Merrer,
Laurence Faivre,
Valérie Cormier-Daire
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,
Morgane Gosselin,
Philippe Koehrer,
Christiane Mousson,
Sylvain Breton,
Martine Le Merrer,
Laurence Faivre,
Valérie Cormier-Daire
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Bertrand Isidor,
Loïc Geffroy,
Benoît de Courtivron,
Cédric Le Caignec,
Cédric Le Caignec,
Christian T. Thiel,
Geert Mortier ,
Valérie Cormier-Daire ,
Albert David,
Annick Toutain
,
Valérie Cormier-Daire ,
Albert David,
Annick Toutain
A New Form of Severe Spondyloepimetaphyseal Dysplasia: Clinical and Radiological Characterization
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Muriel Holder-Espinasse,
Melita Irving,
Valérie Cormier-Daire
Clinical Utility Gene Card for: 3-M syndrome - Update 2013
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Véronique Darmency-Stamboul,
Lydie Burglen,
Estelle Lopez,
Nathalie Mejean,
John Dean,
Brunella Franco,
Diana Rodriguez,
Didier Lacombe,
Isabelle Desguerres,
Valérie Cormier-Daire ,
Bérénice Doray,
Laurent Pasquier,
Marie Gonzales,
Matthew Pastore,
Melissa L. Crenshaw
and 7 other authors
,
Bérénice Doray,
Laurent Pasquier,
Marie Gonzales,
Matthew Pastore,
Melissa L. Crenshaw
and 7 other authors
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome
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Flore Zufferey,
Smaïl Hadj-Rabia,
Annachiara De Sandre-Giovannoli,
Jean-Louis Dufier,
Bruno Leheup,
Cyril Schweitze,
Christine Bodemer,
Valérie Cormier-Daire ,
Martine Le Merrer
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,
Martine Le Merrer
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Eissa Ali Faqeih,
Céline Huber,
Deborah Bartholdi,
Christine Bole-Feysot,
Zvi Borochowitz,
Denise P. Cavalcanti,
Amandine Frigo,
Patrick Nitschke,
Joelle Roume,
Heloísa G. Santos,
Stavit A. Shalev,
Anne-Lise Delezoide,
Andrea Superti-Furga,
Martine Le Merrer,
Valérie Cormier-Daire
and 1 other authors
and 1 other authors
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
Download from www.ncbi.nlm.nih.gov
2012
Jana Pachlopnik Schmid ,
Jana Pachlopnik Schmid,
Roxane Lemoine,
Nadine Nehme,
Valéry Cormier-Daire ,
Patrick Revy,
Franck Debeurme,
Jean-Pierre de Villartay,
Marianne Debré,
Patrick Nitschke,
Christine Bole-Feysot,
Laurence Legeai-Mallet,
Annick Lim,
de Villartay Jp,
Capucine Picard
and 3 other authors
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,
Jana Pachlopnik Schmid,
Roxane Lemoine,
Nadine Nehme,
Valéry Cormier-Daire ,
Patrick Revy,
Franck Debeurme,
Jean-Pierre de Villartay,
Marianne Debré,
Patrick Nitschke,
Christine Bole-Feysot,
Laurence Legeai-Mallet,
Annick Lim,
de Villartay Jp,
Capucine Picard
and 3 other authors
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Audrey Putoux ,
Sheela Nampoothiri,
Nicole Laurent,
Valérie Cormier-Daire ,
Philip L. Beales,
Albert Schinzel,
Deborah Bartholdi,
Caroline Alby,
Sophie Thomas,
Nadia Elkhartoufi,
Amale Ichkou,
Julie Litzler,
Arnold Munnich,
Férechté Encha-Razavi,
Rajesh Kannan
and 5 other authors
,
Sheela Nampoothiri,
Nicole Laurent,
Valérie Cormier-Daire ,
Philip L. Beales,
Albert Schinzel,
Deborah Bartholdi,
Caroline Alby,
Sophie Thomas,
Nadia Elkhartoufi,
Amale Ichkou,
Julie Litzler,
Arnold Munnich,
Férechté Encha-Razavi,
Rajesh Kannan
and 5 other authors
NovelKIF7mutations extend the phenotypic spectrum of acrocallosal syndrome
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Virginie Carmignac,
Julien Thevenon,
Lesley Adès,
Bert Callewaert ,
Sophie Julia,
Christel Thauvin-Robinet,
Lucie Gueneau,
Jean-Benoit Courcet,
Estelle Lopez,
Katherine Holman,
Marjolijn Renard,
Henri Plauchu,
Ghislaine Plessis,
Julie De Backer,
Anne Child
and 24 other authors
,
Sophie Julia,
Christel Thauvin-Robinet,
Lucie Gueneau,
Jean-Benoit Courcet,
Estelle Lopez,
Katherine Holman,
Marjolijn Renard,
Henri Plauchu,
Ghislaine Plessis,
Julie De Backer,
Anne Child
and 24 other authors
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
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A. Brassier,
C. Ottolenghi,
N. Boddaert,
P. Sonigo,
T. Attié Bitach,
A.-E. Millischer Bellaiche,
G. Baujat,
V. Cormier Daire ,
V. Valayannopoulos,
N. Seta,
M. Piraud,
B. Chadefaux Vekemans,
C. Vianey Saban,
R. Froissart,
P. de Lonlay
,
V. Valayannopoulos,
N. Seta,
M. Piraud,
B. Chadefaux Vekemans,
C. Vianey Saban,
R. Froissart,
P. de Lonlay
Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique
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Mathilde Nizon,
Yasemin Alanay,
Beyhan Tuysuz,
Pelin Ozlem Simsek Kiper,
David Geneviève,
David Sillence,
Celine Huber,
Arnold Munnich,
Prof. Valérie Cormier-Daire
IMPAD1mutations in two Catel-Manzke like patients
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Sophie Thomas,
Marine Legendre,
Sophie Saunier,
Bettina Bessières,
Caroline Alby,
Maryse Bonniere,
Laurence Loeuillet,
Annick Toutain,
Frédérique Jossic,
Katarzyna Szymanska,
Dominique Gaillard,
Mohamed Tahar Yacoubi,
Albert David,
Soumaya Mougou-Zerelli,
Marie-Anne Barthez
and 11 other authors
TCTN3 Mutations Cause Mohr-Majewski Syndrome
Download from www.ncbi.nlm.nih.govMissing publications? Search for publications with a matching author name.