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Institut De Genetique Medicale D'Alsace

Scholars7
Papers5
Citations0
Related Papers (5)
Publication Date
Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires
err2026-07-21
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errOAAI
errJuliette Coursimault; Emilie Guillon; François Lecoquierre; Camille Charbonnier; Anne-Marie Guerrot; Alice Goldenberg; Gaël Nicolas; Elise Schaefer; Anael Ayrolles; Richard Delorme; Florence Riccardi; Maude Grelet; Roseline Caumes; Mathilde Nizon; Bertrand Isidor; Guillaume Jouret; Caroline Rooryck; Jeanne Amiel; Anne-Sophie Alaix; Victor Morel; Adeline Jacquinet; Cyril Mignot; Laurence Faivre; Emilie Fraile-Caietta; Sarah Chalopin; Béatrice Dubern; Christine Poitou
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Launching a multi-level data strategy for rare eye diseases: a methodological case study from national to European scale
err2026-07-21
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errOAAI
errCamille Beluffi-Marin; Marilyne Oswald; Isabella Anna Vacchi; David Keegan; Bart Peter Leroy; Hélène Dollfus
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European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework
err2026-06-11
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errOAAI
errFF Fernanda Fortunato; RS Rita Selvatici; JK Jan Kirschner; SS Stefaan Sansen; EA Emanuele Agolini; SO Silvia Ottombrino; EB Enrico Bertini; AN Antonio Novelli; ME Moshe Einhorn; LM Leslie Matalonga; SB Sergi Beltran; IG Ivo G. Gut; AM Alberto M. Pereira; OH Olaf Hiort; FS Franz Schaefer; AV Alain Verloes; AW Ansgar W. Lohse; AA Arthur A. M. Wilde; CB Christine Bodemer; GJ Guillaume Jondeau; HD Hélène Dollfus; HG Holm Graessner; IM Irene M. J. Mathijssen; IL Ikram L'khssim; JB Jean-Yves Blay; LS Luca Sangiorgi; PF Pierre Fenaux; MD María del Mar Mañú Pereira; VG Victoria Gutiérrez Valle; MM Marta Mosca; NH Nicoline Hoogerbrugge; RW Rene Wijnen; TE Teresinha Evangelista; CD Carla D'Angelo; TO Thomas O. F. Wagner; WF Wout F. J. Feitz; RL Ruth Ladenstein; ZD Zoltan Dobai; NW Nico Wulffraat; NR Nicola Ruperto; PJ Paloma Jara Vega; CM Cinzia Maria Bellettato; MS Maurizio Scarpa; MO Michela Onali; ST Sébile Tchaicha; AA Alexis Arzimanoglou; JO Jun Oh; DL Dominic Lenz; BT Birute Tumiene; AZ Aldona Zygmunt; AF Alessandra Ferlini
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Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations
err2026-01-08
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PREAI
errValentina Muto; Giulia Fasano; Francesca Clementina Radio; Catia Pedalino; Mattia Carvetta; Simona Coppola; Erika Zara; Stefania Petrini; Caroline Schluth-Bolard; Claire Bilbault; Salima El Chehadeh; Bénédicte Gérard; Anne de Saint-Martin; Daniel C. Koboldt; Emily Sites; Cynthia Curry; Theresia Herget; Ann-Sophie Höing; Leonie von Elsner; Eileen Elizabeth Barr; Ugur Hodoglugil; Anne Slavotinek; Marco Tartaglia; Antonella Lauri
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Genetic testing after sudden death with negative ancillary investigations: a French prospective study with multidisciplinary collaboration
err2025-10-15
err0
PREAI
errJulien Osouf; Audrey Schalk; Elise Schaefer; Nadège Calmels; Angela Gonzalez; Marie Claire Tortel; Pascal Kintz; Jean-Sébastien Raul; Caroline Schulth-Bolard; Audrey Farrugia
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