Publications by authors named "Florence Renaldo-Robin"

2Publications

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Authors:
Nadège Calmels Géraldine Greff Cathy Obringer Nadine Kempf Claire Gasnier Julien Tarabeux Marguerite Miguet Geneviève Baujat Didier Bessis Patricia Bretones Anne Cavau Béatrice Digeon Martine Doco-Fenzy Bérénice Doray François Feillet Jesus Gardeazabal Blanca Gener Sophie Julia Isabel Llano-Rivas Artur Mazur Caroline Michot Florence Renaldo-Robin Massimiliano Rossi Pascal Sabouraud Boris Keren Christel Depienne Jean Muller Jean-Louis Mandel Vincent Laugel

Orphanet J Rare Dis 2016 Mar 22;11:26. Epub 2016 Mar 22.

Laboratoire de Génétique Médicale - INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de médecine de Strasbourg, 11 rue Humann, Strasbourg, France.

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March 2016

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Authors:
Chloé Di Meglio Gaetan Lesca Nathalie Villeneuve Caroline Lacoste Affef Abidi Pierre Cacciagli Cécilia Altuzarra Agathe Roubertie Alexandra Afenjar Florence Renaldo-Robin Bertrand Isidor Agnes Gautier Marie Husson Claude Cances Julia Metreau Cécile Laroche Mondher Chouchane Dorothée Ville Stéphanie Marignier Christelle Rougeot Marine Lebrun Anne de Saint Martin Alexandra Perez Audrey Riquet Catherine Badens Chantal Missirian Nicole Philip Brigitte Chabrol Laurent Villard Mathieu Milh

Epilepsia 2015 Dec 29;56(12):1931-40. Epub 2015 Oct 29.

Pediatric Neurology Department, Timone Children Hospital, Marseille, France.

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December 2015