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Papers共 37 篇Author StatisticsCo-AuthorSimilar Experts

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De Novo Variants in the RNU4-2 Snrna Cause a Frequent Neurodevelopmental Syndrome
Yuyang Chen,Ruebena Dawes,Hyung Chul Kim,Alicia Ljungdahl,Sarah L Stenton,Susan Walker,Jenny Lord,Gabrielle Lemire, Alexandra C Martin-Geary,Vijay S Ganesh, Jialan Ma,Jamie M Ellingford,Erwan Delage,Elston N D'Souza,Shan Dong,David R Adams, Kirsten Allan,Madhura Bakshi, Erin E Baldwin,Seth I Berger,Jonathan A Bernstein, Ishita Bhatnagar,Ed Blair,Natasha J Brown,Lindsay C Burrage,Kimberly Chapman,David J Coman,Alison G Compton, Chloe A Cunningham,Precilla D'Souza,Petr Danecek,Emmanuèle C Délot,Kerith-Rae Dias,Ellen R Elias,Frances Elmslie,Care-Anne Evans,Lisa Ewans,Kimberly Ezell,Jamie L Fraser,Lyndon Gallacher,Casie A Genetti,Anne Goriely,Christina L Grant,Tobias Haack, Jenny E Higgs,Anjali G Hinch,Matthew E Hurles,Alma Kuechler,Katherine L Lachlan,Seema R Lalani,François Lecoquierre,Elsa Leitão,Anna Le Fevre,Richard J Leventer,Jan E Liebelt,Sarah Lindsay,Paul J Lockhart,Alan S Ma,Ellen F Macnamara,Sahar Mansour,Taylor M Maurer,Hector R Mendez,Kay Metcalfe,Stephen B Montgomery,Mariya Moosajee,Marie-Cécile Nassogne,Serena Neumann, Michael O'Donoghue,Melanie O'Leary,Elizabeth E Palmer, Nikhil Pattani,John Phillips,Georgia Pitsava, Ryan Pysar,Heidi L Rehm,Chloe M Reuter,Nicole Revencu,Angelika Riess,Rocio Rius,Lance Rodan,Tony Roscioli,Jill A Rosenfeld,Rani Sachdev, Charles J Shaw-Smith,Cas Simons,Sanjay M Sisodiya,Penny Snell, Laura St Clair,Zornitza Stark,Helen S Stewart,Tiong Yang Tan,Natalie B Tan,Suzanna E L Temple,David R Thorburn,Cynthia J Tifft,Eloise Uebergang,Grace E VanNoy,Pradeep Vasudevan,Eric Vilain,David H Viskochil,Laura Wedd,Matthew T Wheeler,Susan M White,Monica Wojcik,Lynne A Wolfe,Zoe Wolfenson,Caroline F Wright,Changrui Xiao,David Zocche,John L Rubenstein,Eirene Markenscoff-Papadimitriou,Sebastian M Fica,Diana Baralle,Christel Depienne,Daniel G MacArthur, M,Stephan J Sanders,Anne O'Donnell-Luria,Nicola Whiffin
Natureno. 8026 (2024): 832-840
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Unveiling Pathogenic and Non-Pathogenic FGF14 Repeat Expansions: Identification, Sequence, and Secondary Structure
Christel Depienne, Lars Mohren, Friedrich Erdlenbruch,Elsa Leitão,Fabian Kilpert, G. Sebastian Hönes,Andreas Thieme, Marc Sturm, Joohyun Park,Agatha Schlüter,Montserrat Ruiz, Moisés Morales de la Prida,Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis,Frank Kaiser,Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias Haack, Paul Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe,Dagmar Timmann, Sabine Kaya,Christopher Schroeder
openalex（2024）
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Author Statistics

#Papers: 35

#Citation: 1219

H-Index: 15

G-Index: 26

Sociability: 6

Diversity: 3

Activity: 13

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