Papers authored by Didier Lacombe
Refreshing results…
2016
Patricia Fergelot,
Martine Van Belzen,
Julien Van Gils,
Alexandra Afenjar,
Christine M. Armour,
Benoit Arveiler,
Lex Beets,
Lydie Burglen,
Tiffany Busa,
Marie Collet,
Julie Deforges,
Bert B. A. de Vries,
Elena Dominguez Garrido,
Nathalie Dorison,
Juliette Dupont
and 39 other authors
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations
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Livia Garavelli,
Ivan Ivanovski 
,
Stefano Giuseppe Caraffi ,
Daniela Santodirocco ,
Marzia Pollazzon ,
Duccio Maria Cordelli ,
Ebtesam Abdalla,
Patrizia Accorsi,
Margaret P. Adam ,
Chiara Baldo ,
Allan Bayat ,
Elga Belligni ,
Federico Bonvicini,
Jeroen Breckpot ,
Bert Callewaert
and 44 other authors
,
Stefano Giuseppe Caraffi ,
Daniela Santodirocco ,
Marzia Pollazzon ,
Duccio Maria Cordelli ,
Ebtesam Abdalla,
Patrizia Accorsi,
Margaret P. Adam ,
Chiara Baldo ,
Allan Bayat ,
Elga Belligni ,
Federico Bonvicini,
Jeroen Breckpot ,
Bert Callewaert
and 44 other authors
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients
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Salima El Chehadeh,
Laurence Faivre ,
Valérie Malan,
Mathilde Lefebvre,
Jeanne Amiel,
Nathalie Marle,
Christèle Dubourg,
Jacqueline Vigneron,
Sophie Julia,
Mathilde Nizon,
Catherine Sarret,
Christine Francannet,
Anne-Laure Mosca-Boidron,
Renaud Touraine,
Fanny Laffargue
and 43 other authors
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,
Valérie Malan,
Mathilde Lefebvre,
Jeanne Amiel,
Nathalie Marle,
Christèle Dubourg,
Jacqueline Vigneron,
Sophie Julia,
Mathilde Nizon,
Catherine Sarret,
Christine Francannet,
Anne-Laure Mosca-Boidron,
Renaud Touraine,
Fanny Laffargue
and 43 other authors
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Frederic Brioude,
Irène Netchine,
Francoise Praz,
Marilyne Le Jule,
Claire Calmel,
Didier Lacombe ,
Patrick Edery,
Martin Catala ,
Sylvie Odent,
Bertrand Isidor,
Stanislas Lyonnet,
Sabine Sigaudy,
Bruno Leheup,
Séverine Audebert-Bellanger,
Lydie Burglen
and 16 other authors
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,
Patrick Edery,
Martin Catala ,
Sylvie Odent,
Bertrand Isidor,
Stanislas Lyonnet,
Sabine Sigaudy,
Bruno Leheup,
Séverine Audebert-Bellanger,
Lydie Burglen
and 16 other authors
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Christopher T. Gordon,
K. Nicole Weaver,
K. Nicole Weaver,
Roseli Maria Zechi-Ceide,
Erik C. Madsen,
Andre L. P. Tavares,
Myriam Oufadem,
Yukiko Kurihara,
Igor Adameyko,
Arnaud Picard,
Sylvain Breton,
Sébastien Pierrot,
Martin Biosse-Duplan,
Norine Voisin,
Cécile Masson
and 19 other authors
Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia
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Marie Vincent ,
David Genevieve ,
Agnès Ostertag ,
Sandrine Marlin,
Didier Lacombe ,
Dominique Martin-Coignard,
Christine Coubes,
Albert David,
Stanislas Lyonnet,
Catheline Vilain,
Anne Dieux-Coeslier,
Sylvie Manouvrier,
Bertrand Isidor,
Marie-Line Jacquemont,
Sophie Julia
and 41 other authors
,
David Genevieve ,
Agnès Ostertag ,
Sandrine Marlin,
Didier Lacombe ,
Dominique Martin-Coignard,
Christine Coubes,
Albert David,
Stanislas Lyonnet,
Catheline Vilain,
Anne Dieux-Coeslier,
Sylvie Manouvrier,
Bertrand Isidor,
Marie-Line Jacquemont,
Sophie Julia
and 41 other authors
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
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Mouna Barat-Houari,
Bruno Dumont,
Aurélie Fabre,
Frédéric Tm Them,
Yves Alembik,
Jean-Luc Alessandri,
Jeanne Amiel ,
Eric Bieth,
Séverine Audebert,
Marie Brechard,
Clarisse Baumann-Morel,
Tiffany Busa,
Patrick Calvas,
Patricia Blanchet,
Yline Capri
and 40 other authors
,
Eric Bieth,
Séverine Audebert,
Marie Brechard,
Clarisse Baumann-Morel,
Tiffany Busa,
Patrick Calvas,
Patricia Blanchet,
Yline Capri
and 40 other authors
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
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Alain Verloes ,
Nataliya Di Donato,
Julien Masliah-Planchon,
Marjolijn Jongmans,
Omar A. Abdul-Raman,
Beate Albrecht,
Judith Allanson,
Han Brunner,
Debora Bertola,
Nicolas Chassaing,
Albert David,
Koen Devriendt,
Pirayeh Eftekhari,
Valérie Drouin-Garraud,
Francesca Faravelli
and 37 other authors
,
Nataliya Di Donato,
Julien Masliah-Planchon,
Marjolijn Jongmans,
Omar A. Abdul-Raman,
Beate Albrecht,
Judith Allanson,
Han Brunner,
Debora Bertola,
Nicolas Chassaing,
Albert David,
Koen Devriendt,
Pirayeh Eftekhari,
Valérie Drouin-Garraud,
Francesca Faravelli
and 37 other authors
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
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Florence Démurger,
Amale Ichkou,
Soumaya Mougou-Zerelli,
Martine Le Merrer,
Martine Le Merrer,
Géraldine Goudefroye,
Anne-Lise Delezoide,
Chloé Quélin,
Laurent Pasquier,
Sylvie Manouvrier,
André Megarbané,
Geneviève Baujat,
Joëlle Roume,
Laurence Faivre,
Mélanie Fradin
and 38 other authors
New insights into genotype-phenotype correlation for GLI3 mutations
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