All papers authored by Didier Lacombe
Refreshing results…
2021
Angèle Tingaud-Sequeira 
,
Aurélien Trimouille ,
Manju Salaria,
Rachel Stapleton,
Stéphane Claverol,
Claudio Plaisant ,
Marc Bonneu ,
Estelle Lopez,
Benoit Arveiler ,
Didier Lacombe ,
Caroline Rooryck
,
Aurélien Trimouille ,
Manju Salaria,
Rachel Stapleton,
Stéphane Claverol,
Claudio Plaisant ,
Marc Bonneu ,
Estelle Lopez,
Benoit Arveiler ,
Didier Lacombe ,
Caroline Rooryck
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
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M. Szelechowski,
N. Amoedo,
E. Obre,
C. Léger,
L. Allard,
M. Bonneu,
S. Claverol,
D. Lacombe ,
S. Oliet,
S. Chevallier,
G. Le Masson,
R. Rossignol
,
S. Oliet,
S. Chevallier,
G. Le Masson,
R. Rossignol
Metabolic Reprogramming in Amyotrophic Lateral Sclerosis
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Suzanne Chartier ,
Caroline Alby,
Lucile Boutaud,
Sophie Thomas,
Nadia Elkhartoufi,
Jelena Martinovic,
Josseline Kaplan,
Alexandra Benachi,
Didier Lacombe ,
Pascale Sonigo,
Séverine Drunat,
Michel Vekemans,
Joël Agenor,
Férechté Encha Razavi,
Tania Attie-Bitach
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,
Caroline Alby,
Lucile Boutaud,
Sophie Thomas,
Nadia Elkhartoufi,
Jelena Martinovic,
Josseline Kaplan,
Alexandra Benachi,
Didier Lacombe ,
Pascale Sonigo,
Séverine Drunat,
Michel Vekemans,
Joël Agenor,
Férechté Encha Razavi,
Tania Attie-Bitach
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2017
Aurélien Trimouille,
Nada Houcinat,
Marie-Laure Vuillaume,
Patricia Fergelot,
Cécile Boucher,
Jérôme Toutain,
Cédric Le Caignec,
Marie Vincent,
Mathilde Nizon,
Joris Andrieux,
Clémence Vanlerberghe ,
Bruno Delobel,
Bénédicte Duban,
Sahar Mansour ,
Emma Baple
and 12 other authors
Download from www.nature.com
,
Bruno Delobel,
Bénédicte Duban,
Sahar Mansour ,
Emma Baple
and 12 other authors
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Catherine Vincent-Delorme,
Marine Legendre ,
Véronique Abadie,
Tania Attié-Bitach,
Nicole Philip,
Tiffany Busa,
Sophie Blesson,
Dominique Martin-Coignard,
Sophie Julia,
Dominique Bonneau,
David Geneviève,
Estelle Colin,
Pierre-Simon Jouk,
Bruno Leheup,
Hélène Dollfus
and 32 other authors
,
Véronique Abadie,
Tania Attié-Bitach,
Nicole Philip,
Tiffany Busa,
Sophie Blesson,
Dominique Martin-Coignard,
Sophie Julia,
Dominique Bonneau,
David Geneviève,
Estelle Colin,
Pierre-Simon Jouk,
Bruno Leheup,
Hélène Dollfus
and 32 other authors
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
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Christelle M. Durand ,
Laura Dhers,
Christelle Tesson,
Alessandra Tessa,
Laetitia Fouillen,
Stéphanie Jacqueré,
Laure Raymond,
Isabelle Coupry,
Giovanni Benard,
Frédéric Darios,
Khalid H. El-Hachimi,
Guja Astrea,
François Rivier,
Guillaume Banneau,
Claire Pujol
and 9 other authors
,
Laura Dhers,
Christelle Tesson,
Alessandra Tessa,
Laetitia Fouillen,
Stéphanie Jacqueré,
Laure Raymond,
Isabelle Coupry,
Giovanni Benard,
Frédéric Darios,
Khalid H. El-Hachimi,
Guja Astrea,
François Rivier,
Guillaume Banneau,
Claire Pujol
and 9 other authors
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56
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Anne-Claude Tabet ,
Thomas Rolland ,
Marie Ducloy,
Jonathan Lévy ,
Julien Buratti,
Alexandre Mathieu,
Damien Haye,
Laurence Perrin,
Céline Dupont ,
Yline Capri,
Sandrine Passemard,
Alain Verloes,
Séverine Drunat,
Boris Keren,
Cyril Mignot
and 47 other authors
,
Thomas Rolland ,
Marie Ducloy,
Jonathan Lévy ,
Julien Buratti,
Alexandre Mathieu,
Damien Haye,
Laurence Perrin,
Céline Dupont ,
Yline Capri,
Sandrine Passemard,
Alain Verloes,
Séverine Drunat,
Boris Keren,
Cyril Mignot
and 47 other authors
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
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Guillaume Dorval,
Olivier Gribouval,
Vanesa Martinez-Barquero,
Eduardo Machuca,
Marie-Josèphe Tête,
Véronique Baudouin,
Stéphane Benoit,
Imen Chabchoub,
Gérard Champion,
Dominique Chauveau,
Hassib Chehade,
Chokri Chouchane,
Sylvie Cloarec,
Pierre Cochat,
Karin Dahan
and 35 other authors
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome
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Jean René Cazalets ,
Emma Bestaven,
Emilie Doat,
Marie Pierre Baudier,
Cécile Gallot,
Anouck Amestoy,
Manuel Bouvard,
Etienne Guillaud,
Isabelle Guillain,
Emelyne Grech,
Julien Van-Gils,
Patricia Fergelot,
Sonia Fraisse,
Emmanuelle Taupiac,
Benoit Arveiler
and 1 other authors
,
Emma Bestaven,
Emilie Doat,
Marie Pierre Baudier,
Cécile Gallot,
Anouck Amestoy,
Manuel Bouvard,
Etienne Guillaud,
Isabelle Guillain,
Emelyne Grech,
Julien Van-Gils,
Patricia Fergelot,
Sonia Fraisse,
Emmanuelle Taupiac,
Benoit Arveiler
and 1 other authors
Evaluation of Motor Skills in Children with Rubinstein–Taybi Syndrome
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Solveig Heide ,
Boris Keren,
Thierry Billette de Villemeur,
Sandra Chantot-Bastaraud,
Christel Depienne,
Caroline Nava,
Cyril Mignot,
Aurélia Jacquette,
Eric Fonteneau,
Elodie Lejeune,
Corinne Mach,
Isabelle Marey,
Sandra Whalen,
Didier Lacombe ,
Sophie Naudion
and 15 other authors
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,
Boris Keren,
Thierry Billette de Villemeur,
Sandra Chantot-Bastaraud,
Christel Depienne,
Caroline Nava,
Cyril Mignot,
Aurélia Jacquette,
Eric Fonteneau,
Elodie Lejeune,
Corinne Mach,
Isabelle Marey,
Sandra Whalen,
Didier Lacombe ,
Sophie Naudion
and 15 other authors
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Natacha Lehman ,
Anne-Claire Mazery,
Antoine Visier,
Clarisse Baumann,
Dominique Lachesnais,
Yline Capri,
Annick Toutain,
Sylvie Odent,
Myriam Mikaty,
E. Taupiac,
M. L. Jacquemont,
Cyril Goizet,
E. Sanchez,
E. Schaefer,
V. Gatinois
and 16 other authors
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,
Anne-Claire Mazery,
Antoine Visier,
Clarisse Baumann,
Dominique Lachesnais,
Yline Capri,
Annick Toutain,
Sylvie Odent,
Myriam Mikaty,
E. Taupiac,
M. L. Jacquemont,
Cyril Goizet,
E. Sanchez,
E. Schaefer,
V. Gatinois
and 16 other authors
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Julien Cottineau,
Molly C. Kottemann,
Francis P. Lach,
Kottemann Mc,
Young-Hoon Kang,
Frédéric Vély,
Elissa K. Deenick,
Lach Fp,
Tomi Lazarov,
Laure Gineau,
Yi Wang,
Andrea Farina,
Kang Yh,
Marie Chansel
and 33 other authors
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Damian J. Ralser,
F. Buket Ü. Basmanav,
Aylar Tafazzoli,
Jade Wititsuwannakul,
Sarah Delker,
Sumita Danda,
Holger Thiele,
Sabrina Wolf,
Michélle Busch,
Susanne A. Pulimood,
Janine Altmüller ,
Peter Nürnberg,
Didier Lacombe ,
Uwe Hillen,
Jörg Wenzel
and 3 other authors
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,
Peter Nürnberg,
Didier Lacombe ,
Uwe Hillen,
Jörg Wenzel
and 3 other authors
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