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Research Interests

Papers共 89 篇Author StatisticsCo-AuthorSimilar Experts

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GABRA1-Related Disorders: from Genetic to Functional Pathways
Elisa Musto, Vivian W. Y. Liao,Katrine M. Johannesen,Christina D. Fenger,Damien Lederer,Kavitha Kothur, Katrina Fisk,Bruce Bennetts,Pascal Vrielynck, Delphine Delaby,Berten Ceulemans,Sarah Weckhuysen,Peter Sparber,Arjan Bouman, Simone Ardern-Holmes,Christopher Troedson, Domenica I. Battaglia, Himanshu Goel,Timothy Feyma, Somayeh Bakhtiari, Linda Tjoa,Martin Boxill, Nina Demina,Olga Shchagina, Elena Dadali, Michael Kruer,Gaetano Cantalupo,Ilaria Contaldo, Tilman Polster,Bertrand Isidor,Stefania M. Bova,Walid Fazeli, Leen Wouters,Maria J. Miranda,Francesca Darra, Elisa Pede,Diana Le Duc,Rami Abou Jamra,Sebastien Kury,Jacopo Proietti, Niamh Mcsweeney, Elly Brokamp, Peter Ian Andrews, Marie Gouray Garcia, Mary Chebib,Rikke S. Moller, Philip K. Ahring,Elena Gardella
ANNALS OF NEUROLOGY（2024）
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G004 Genetic Counselling in Huntington Disease: Think at an Additional Genetic Condition
Christine Verellen-Dumoulin, Karin Dahan,Damien Lederer, Stéphanie Dubruille, Frédérique Claes, Emilie Guerit, Steffi Sandow,Sébastien Boulanger,Deniz Karadurmus, Michel Dupuis
G Genetic testing and counselling (2024)
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BRAT1–related Disorders: Phenotypic Spectrum and Phenotype-Genotype Correlations from 97 Patients
Camille Engel,Stéphanie Valence,Geoffroy Delplancq,Reza Maroofian,Andrea Accogli,Emanuele Agolini,Fowzan S. Alkuraya,Valentina Baglioni,Irene Bagnasco,Mathilde Becmeur-Lefebvre,Enrico Bertini,Ingo Borggraefe,Elise Brischoux-Boucher,Ange-Line Bruel,Alfredo Brusco,Dalal K. Bubshait,Christelle Cabrol,Maria Roberta Cilio,Marie-Coralie Cornet,Christine Coubes,Olivier Danhaive,Valérie Delague,Anne-Sophie Denommé-Pichon,Marilena Carmela Di Giacomo,Martine Doco-Fenzy,Hartmut Engels,Kirsten Cremer,Marion Gérard,Joseph G. Gleeson,Delphine Heron,Joanna Goffeney,Anne Guimier,Frederike L. Harms,Henry Houlden,Michele Iacomino,Rauan Kaiyrzhanov,Benjamin Kamien,Ehsan Ghayoor Karimiani,Dror Kraus,Paul Kuentz,Kerstin Kutsche,Damien Lederer,Lauren Massingham,Cyril Mignot,Déborah Morris-Rosendahl,Lakshmi Nagarajan,Sylvie Odent,Clothilde Ormières, Jennifer Neil Partlow,Laurent Pasquier,Lynette Penney,Christophe Philippe,Gianluca Piccolo,Cathryn Poulton,Audrey Putoux,Marlène Rio,Christelle Rougeot,Vincenzo Salpietro,Ingrid Scheffer,Amy Schneider,Siddharth Srivastava,Rachel Straussberg,Pasquale Striano,Enza Maria Valente,Perrine Venot,Laurent Villard,Antonio Vitobello,Johanna Wagner,Matias Wagner,Maha S. Zaki,Federizo Zara,Gaetan Lesca,Vahid Reza Yassaee,Mohammad Miryounesi,Farzad Hashemi-Gorji, Mehran Beiraghi,Farah Ashrafzadeh,Hamid Galehdari,Christopher Walsh,Antonio Novelli,Moritz Tacke,Dinara Sadykova,Yerdan Maidyrov, Kairgali Koneev,Chingiz Shashkin,Valeria Capra,Mina Zamani,Lionel Van Maldergem,Lydie Burglen,Juliette Piard
European Journal of Human Genetics (2023)
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Author Statistics

#Papers: 89

#Citation: 1801

H-Index: 22

G-Index: 42

Sociability: 7

Diversity: 0

Activity: 2

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