Papers authored by Jeanne Amiel
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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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L. Brueton,
K. Chrzanowska,
H. Brunner,
M. del Campo Casanelles,
B. Dallapiccola,
K. Devriendt,
D. Donnai
and 24 other authors
Dysmorphology at a distance: results of a web-based diagnostic service
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Aravinda Chakravarti,
Francoise Clerget-Darpoux,
Jeanne Amiel
and 1 other authors
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease
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Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Download from www.ncbi.nlm.nih.gov
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Marlène Rio,
Audrey Briand-Suleau,
Mayssa Nasser,
Linda Goodwin,
Patrick Raymond,
Constantin Yanicostas,
Michel Goossens,
Stanislas Lyonnet,
David Mowat,
Jeanne Amiel ,
Nadia Soussi-Yanicostas
and 1 other authors
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome
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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome
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Martine Caron-Debarle,
Magali Avila,
Judith St-Onge,
Martine Le Merrer,
Bernard Le Luyer,
Delphine Héron,
Michele Mathieu-Dramard,
Pierre Bitoun,
Jean-Michel Petit,
Sylvie Odent,
Jeanne Amiel ,
Damien Picot
and 14 other authors
PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
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EFTUD2haploinsufficiency leads to syndromic oesophageal atresia
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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
Download from www.ncbi.nlm.nih.gov
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Geneviève Baujat,
Nadia Bahi-Buisson,
Vassili Valayannopoulos,
Roseline Gesny,
Jean-Paul Bonnefont,
Arnold Munnich,
Guy Froyen,
Jeanne Amiel ,
Nathalie Boddaert,
Laurence Colleaux
Download from www.nature.com
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