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Research Interests

Papers共 234 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability
Amélie Cordovado, Yvan Hérenger, Coline Cormier, Estrella López-Martín,Hannah Stamberger,Laurence Faivre, Anne-Sophie Denommé-Pichon,Antonio Vitobello, Hamza Hadj Abdallah,Giulia Barcia,Thomas Courtin, Beatriz Martínez-Delgado, Eva Bermejo-Sánchez,María J Barrero, Brooklynn Gasser,Stéphane Bezieau,Sébastien Küry,Sarah Weckhuysen,Frédéric Laumonnier,Annick Toutain, Marie-Laure Vuillaume
Human mutation (2025): 7085599-7085599
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ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias
Mary E Moya-Mendez, Minu-Tshyeto Bidzimou, Padmapriya Muralidharan,Zhushan Zhang, Jordan E Ezekian,Robin M Perelli, Lauren E Parker, Lyndsey Prange, April Boggs,Jeffrey J Kim,Taylor S Howard,Tarah A Word,Xander H T Wehrens,Gabriela Reyes Valenzuela,Roberto Caraballo,Giacomo Garone,Federico Vigevano,Sarah Weckhuysen,Charissa Millevert,Monica Troncoso, Mario Matamala,Simona Balestrini,Sanjay M Sisodiya, Josephine Poole,Claudio Zucca,Eleni Panagiotakaki, Maria T Papadopoulou, Sébile Tchaicha,Marta Zawadzka,Maria Mazurkiewicz-Beldzinska,Carmen Fons, Jennifer Anticona,Elisa De Grandis,Ramona Cordani,Livia Pisciotta,Sergiu Groppa, Sandra Paryjas,Francesca Ragona, Elena Mangia,Tiziana Granata, Andrey Megvinov, Mirjana Pavlicek, Kevin Ess, Christine Q Simmons,Alfred L George, Rosaria Vavassori,Mohamad A Mikati,Andrew P Landstrom
JAMA pediatricsno. 5 (2025): 529-539
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The Genetic and Phenotypic Spectrum of GABRB1-related Disorders
Charissa Millevert, Anthony Sze Hon Kan, Moritz Hanke, Mahmoud Koko, Maryam Erfanian Omidvar,Ulrike B S Hedrich,Thomas V Wuttke,Nina Barišić,Lieven Lagae,Ángel Aledo-Serrano, Eva-Maria Niehoff,Konrad Platzer,Pia Zacher,Tilman Polster, Robertino Dilena,Edoardo Monfrini,David Geneviève,Agathe Roubertie,Ange-Line Bruel, Frederic Tran Mau-Them, Majed Dasouki, Stacey Cohen,Ingo Helbig, Alicia G Harrison,Ellis Colin, Holly A Dubbs, Eric D Marsh,Sébastien Lebon,Na He, Heng Meng, Mary Chebib,Rikke S Møller,Carla Marini,Philip K Ahring,Holger Lerche,Sarah Weckhuysen
Brain a journal of neurology (2025)
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Author Statistics

#Papers: 234

#Citation: 10217

H-Index: 55

G-Index: 98

Sociability: 8

Diversity: 3

Activity: 36

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