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Research Interests

Papers共 32 篇Author StatisticsCo-AuthorSimilar Experts

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Biallelic Variants in ERLIN1: a Series of 13 Individuals with Spastic Paraparesis
Guillaume Cogan, Maha S. Zaki,Mahmoud Issa, Boris Keren,Marine Guillaud-Bataille,Florence Renaldo,Arnaud Isapof, Pauline Lallemant, Giovanni Stevanin,Lena Guillot-Noel,Thomas Courtin,Julien Buratti,Cécile Freihuber,Joseph G. Gleeson, Robyn Howarth,Alexandra Durr, Jean-Madeleine de Sainte Agathe, Cyril Mignot
Human Genetics（2024）
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Une Ataxie Récidivante
Margaux Gaschignard, Méghane Durizot,Florence Renaldo,Clément Pontoizeau,Apolline Imbard,Aurore Desmons, Manuel Schiff
Perfectionnement en Pédiatrie (2024)
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Mechanism of KMT5B Haploinsufficiency in Neurodevelopment in Humans and Mice
Sarah E. Sheppard,Laura Bryant,Rochelle N. Wickramasekara,Courtney Vaccaro,Brynn Robertson,Jodi Hallgren,Jason Hulen,Cynthia J. Watson,Victor Faundes,Yannis Duffourd,Pearl Lee,M. Celeste Simon,Xavier de la Cruz,Natalia Padilla,Marco Flores-Mendez,Naiara Akizu,Jacqueline Smiler,Renata Pellegrino Da Silva,Dong Li,Michael March,Abdias Diaz-Rosado,Isabella Peixoto de Barcelos,Zhao Xiang Choa,Chin Yan Lim,Christele Dubourg,Hubert Journel,Florence Demurger,Maureen Mulhern,Cigdem Akman,Natalle Lippa,Marisa Andrews,Dustin Baldridge,John Constantino,Anita Rauch,Arie van Haeingen, Irina Snoeck-Streef,Penny Chow,Anne Hing,John M. Graham,Margaret Au,Laurence Falvre, Wel Shen,Rong Mao,Janice Palumbos,David Viskochil,William Gahl,Cynthia Tifft,Ellen Macnamara,Natalie Hauser,Rebecca Miller, Jessica Maffeo,Alexandra Afenjar,Diane Doummar,Boris Keren,Pamela Arn, Sarah Mackllin-Mantla,Ilse Meerschaut,Bert Callewaert, Andre Rels,Christiane Zweler,Carole Brewer,Anand Saggar,Marie F. Smeland,Ajith Kumar,Frances Elmslie,Charu Deshpande,Mathilde Nizon,Benjamin Cogne,Yvette van Ierland,Martina Wilke,Marjon van Slegtenhorst,Suzanne Koudijs,Jin Yun Chen,David Dredge, Danielle Pler,Saskia Wortmann,Erik-Jann Kamsteeg,Johannes Koch,Devon Haynes,Lynda Pollack,Hannah Titheradge,Kara Ranguin,Anne-Sophie Denomme-Pichon,Sacha Weber,Ruben Perez de la Fuente,Jaime Sanchez del Pozo,Jose Miguel Lezana Rosales,Pascal Joset,Katharina Steindl, Ani Rauch,Davide Mei,Francesco Mari,Renzo Guerrini,James Lespinasse,Frederic Tran Mau-Then,Christophe Philippe,Benjamin Dauriat,Laure Raymond,Sebastien Moutton,Anna M. Cueto-Gonzalez,Tiong Yang Tan,Cyril Mignot,Sarah Grotto,Florence Renaldo,Theodore G. Drivas,Laura Hennessy,Anna Raper,Ilaria Parenti,Frank J. Kaiser,Alma Kuechler,Oyvind L. Busk,Lily Islam,Jacob A. Siedlik,Lindsay B. Henderson,Jane Juusola,Richard Person,Rhonda E. Schnur,Antonio Vitobello,Siddharth Banka,Elizabeth J. Bhoj,Holly A. F. Stessman
Science advancesno. 10 (2023)
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Author Statistics

#Papers: 32

#Citation: 649

H-Index: 14

G-Index: 23

Sociability: 6

Diversity: 3

Activity: 5

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