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Papers共 45 篇Author StatisticsCo-AuthorSimilar Experts

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PURA-Related Developmental and Epileptic Encephalopathy
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, Amelie Piton,Laurence Faivre,Aurore Garde,Sebastien Moutton,Frederic Tran-Mau-Them,Anne-Sophie Denomme-Pichon,Christine Coubes,Austin Larson,Michael J. Esser,Juan Pablo Appendino,Walla Al-Hertani,Beatriz Gamboni,Alejandra Mampel,Lia 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 Goes,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 Gronborg,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-Gonzalez,Holly Dubbs,Antonio Vitobello,Mel Anderson,Dominic Spadafore,David Hunt, Rikke S. Moller,Guido Rubboli
NEUROLOGY-GENETICSno. 6 (2021)
Cited0Views0Bibtex
0
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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）
Cited16Views0WOSBibtex
16
0
Phenotypic Spectrum and Transcriptomic Profile Associated with Germline Variants in TRAF7
Laura Castilla-Vallmanya,Kaja K. Selmer,Clemantine Dimartino,Raquel Rabionet,Bernardo Blanco-Sanchez,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-Coeslier,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,Melanie Parisot,Christine Bole-Feysot,Patrick Nitschke,Veronique Pingault,Arnold Munnich,Megan T. Cho,Valerie Cormier-Daire,Susanna Balcells,Stanislas Lyonnet,Daniel Grinberg,Jeanne Amiel,Roser Urreizti,Christopher T. Gordon
Genetics in medicine（2020）
Cited16Views0WOSBibtex
16
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Author Statistics

#Papers: 46

#Citation: 2683

H-Index: 24

G-Index: 32

Sociability: 7

Diversity: 2

Activity: 20

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