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研究兴趣

论文共 46 篇作者统计合作学者相似作者

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PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Katrine M Johannesen,Elena Gardella,Cathrine E Gjerulfsen,Allan Bayat,Rob P W Rouhl,Margot Reijnders,Sandra Whalen,Boris Keren,Julien Buratti,Thomas Courtin,Klaas J Wierenga,Bertrand Isidor,Amélie Piton,Laurence Faivre,Aurore Garde,Sébastien Moutton,Frédéric Tran-Mau-Them,Anne-Sophie Denommé-Pichon,Christine Coubes,Austin Larson,Michael J Esser,Juan Pablo Appendino,Walla Al-Hertani,Beatriz Gamboni,Alejandra Mampel,Lía Mayorga,Alessandro Orsini,Alice Bonuccelli,Agnese Suppiej,Julien Van-Gils,Julie Vogt,Simona Damioli,Lucio Giordano,Stephanie Moortgat,Elaine Wirrell,Sarah Hicks,Usha Kini,Nathan Noble,Helen Stewart,Shailesh Asakar,Julie S Cohen,SakkuBai R Naidu,Ashley Collier,Eva H Brilstra,Mindy H Li,Casey Brew,Stefania Bigoni,Davide Ognibene,Elisa Ballardini,Claudia Ruivenkamp,Raffaella Faggioli,Alexandra Afenjar,Diana Rodriguez,David Bick,Devorah Segal,David Coman,Boudewijn Gunning,Orrin Devinsky,Laurie A Demmer,Theresa Grebe,Dario Pruna,Ida Cursio,Lynn Greenhalgh,Claudio Graziano,Rahul Raman Singh,Gaetano Cantalupo,Marjolaine Willems,Sangeetha Yoganathan, Fernanda Góes,Richard J Leventer,Davide Colavito,Sara Olivotto,Barbara Scelsa,Andrea V Andrade,Kelly Ratke,Farha Tokarz,Atiya S Khan,Clothilde Ormieres,William Benko,Karen Keough,Sotirios Keros,Shanawaz Hussain,Ashlea Franques,Felicia Varsalone,Sabine Grønborg,Cyril Mignot,Delphine Heron,Caroline Nava,Arnaud Isapof,Felippe Borlot,Robyn Whitney,Anne Ronan,Nicola Foulds,Marta Somorai,John Brandsema,Katherine L Helbig,Ingo Helbig,Xilma R Ortiz-González,Holly Dubbs,Antonio Vitobello,Mel Anderson,Dominic Spadafore,David Hunt,Rikke S Møller,Guido Rubboli
Neurology. Genetics（2021）
引用16浏览0WOS引用
16
0
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Katrine M Johannesen,Elena Gardella,Cathrine E Gjerulfsen,Allan Bayat,Rob P W Rouhl,Margot Reijnders,Sandra Whalen,Boris Keren,Julien Buratti,Thomas Courtin,Klaas J Wierenga,Bertrand Isidor,Amélie Piton,Laurence Faivre,Aurore Garde,Sébastien Moutton,Frédéric Tran-Mau-Them,Anne-Sophie Denommé-Pichon,Christine Coubes,Austin Larson,Michael J Esser,Juan Pablo Appendino,Walla Al-Hertani,Beatriz Gamboni,Alejandra Mampel,Lía Mayorga,Alessandro Orsini,Alice Bonuccelli,Agnese Suppiej,Julien Van-Gils,Julie Vogt,Simona Damioli,Lucio Giordano,Stephanie Moortgat,Elaine Wirrell,Sarah Hicks,Usha Kini,Nathan Noble,Helen Stewart,Shailesh Asakar,Julie S Cohen,SakkuBai R Naidu,Ashley Collier,Eva H Brilstra,Mindy H Li,Casey Brew,Stefania Bigoni,Davide Ognibene,Elisa Ballardini,Claudia Ruivenkamp,Raffaella Faggioli,Alexandra Afenjar,Diana Rodriguez,David Bick,Devorah Segal,David Coman,Boudewijn Gunning,Orrin Devinsky,Laurie A Demmer,Theresa Grebe,Dario Pruna,Ida Cursio,Lynn Greenhalgh,Claudio Graziano,Rahul Raman Singh,Gaetano Cantalupo,Marjolaine Willems,Sangeetha Yoganathan,Fernanda Góes,Richard J Leventer,Davide Colavito,Sara Olivotto,Barbara Scelsa,Andrea V Andrade,Kelly Ratke,Farha Tokarz,Atiya S Khan,Clothilde Ormieres,William Benko,Karen Keough,Sotirios Keros,Shanawaz Hussain,Ashlea Franques,Felicia Varsalone,Sabine Grønborg,Cyril Mignot,Delphine Heron,Caroline Nava,Arnaud Isapof,Felippe Borlot,Robyn Whitney,Anne Ronan,Nicola Foulds,Marta Somorai,John Brandsema,Katherine L Helbig,Ingo Helbig,Xilma R Ortiz-González,Holly Dubbs,Antonio Vitobello,Mel Anderson,Dominic Spadafore,David Hunt,Rikke S Møller,Guido Rubboli
Neurology Geneticsno. 6 (2021): e613-e613
引用4浏览0引用
4
0
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Laura Castilla-Vallmanya,Kaja K Selmer,Clémantine Dimartino,Raquel Rabionet,Bernardo Blanco-Sánchez,Sandra Yang,Margot R F Reijnders, Antonie J van Essen,Myriam Oufadem,Magnus D Vigeland,Barbro Stadheim,Gunnar Houge,Helen Cox,Helen Kingston,Jill Clayton-Smith,Jeffrey W Innis,Maria Iascone,Anna Cereda,Sara Gabbiadini,Wendy K Chung,Victoria Sanders,Joel Charrow,Emily Bryant,John Millichap,Antonio Vitobello,Christel Thauvin,Frederic Tran Mau-Them,Laurence Faivre,Gaetan Lesca,Audrey Labalme,Christelle Rougeot,Nicolas Chatron,Damien Sanlaville,Katherine M Christensen,Amelia Kirby,Raymond Lewandowski, Rachel Gannaway, Maha Aly,Anna Lehman,Lorne Clarke,Luitgard Graul-Neumann,Christiane Zweier,Davor Lessel,Bernarda Lozic,Ingvild Aukrust,Ryan Peretz,Robert Stratton,Thomas Smol,Anne Dieux-Coëslier,Joanna Meira,Elizabeth Wohler,Nara Sobreira,Erin M Beaver,Jennifer Heeley,Lauren C Briere,Frances A High,David A Sweetser,Melissa A Walker,Catherine E Keegan,Parul Jayakar,Marwan Shinawi,Wilhelmina S Kerstjens-Frederikse,Dawn L Earl,Victoria M Siu,Emma Reesor,Tony Yao,Robert A Hegele,Olena M Vaske,Shannon Rego,Kevin A Shapiro, Brian Wong,Michael J Gambello,Marie McDonald,Danielle Karlowicz,Roberto Colombo,Alessandro Serretti,Lynn Pais,Anne O'Donnell-Luria, Alison Wray,Simon Sadedin,Belinda Chong,Tiong Y Tan,John Christodoulou,Susan M White,Anne Slavotinek,Deborah Barbouth,Dayna Morel Swols,Mélanie Parisot,Christine Bole-Feysot,Patrick Nitschké,Véronique Pingault,Arnold Munnich,Megan T Cho,Valérie Cormier-Daire,Susanna Balcells,Stanislas Lyonnet,Daniel Grinberg,Jeanne Amiel,Roser Urreizti,Christopher T Gordon
Genetics in medicine : official journal of the American College of Medical Genetics（2020）
引用16浏览0WOS引用
16
0
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作者统计

#Papers: 45

#Citation: 2725

H-Index: 24

G-Index: 45

Sociability: 7

Diversity: 0

Activity: 0

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