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Research Interests

Papers共 56 篇Author StatisticsCo-AuthorSimilar Experts

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Unveiling the Crucial Neuronal Role of the Proteasomal ATPase Subunit Gene PSMC5 in Neurodevelopmental Proteasomopathies
Sébastien Küry,Janelle E Stanton,Geeske van Woerden,Tzung-Chien Hsieh,Cory Rosenfelt,Marie Pier Scott-Boyer,Victoria Most,Tianyun Wang,Jonas Johannes Papendorf,Charlotte de Konink,Wallid Deb,Virginie Vignard,Maja Studencka-Turski,Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel,Sophie Möller,Laëtitia Florenceau,Silvestre Cuinat, Sylvain Marsac,Ingrid Wentzensen, Annabelle Tuttle,Cara Forster,Johanna Striesow,Richard Golnik,Damara Ortiz, Laura Jenkins,Jill A Rosenfeld,Alban Ziegler,Clara Houdayer,Dominique Bonneau,Erin Torti,Amber Begtrup,Kristin G Monaghan,Sureni V Mullegama, C M L Nienke Volker-Touw,Koen L I van Gassen,Renske Oegema, Mirjam de Pagter,Katharina Steindl,Anita Rauch,Ivan Ivanovski,Kimberly McDonald,Emily Boothe,Andrew Dauber,Janice Baker, Noelle Andrea V Fabie,Raphael A Bernier,Tychele N Turner,Siddharth Srivastava,Kira A Dies,Lindsay Swanson,Carrie Costin,Rebekah K Jobling,John Pappas,Rachel Rabin,Dmitriy Niyazov,Anne Chun-Hui Tsai, Karen Kovak,David B Beck, McV Malicdan,David R Adams,Lynne Wolfe,Rebecca D Ganetzky,Colleen Muraresku,Davit Babikyan,Zdeněk Sedláček,Miroslava Hančárová,Andrew T Timberlake,Hind Al Saif, Berkley Nestler,Kayla King,M J Hajianpour,Gregory Costain, D'Arcy Prendergast,Chumei Li,David Geneviève,Antonio Vitobello,Arthur Sorlin,Christophe Philippe,Tamar Harel,Ori Toker,Ataf Sabir,Derek Lim,Mark Hamilton,Lisa Bryson,Elaine Cleary,Sacha Weber,Trevor L Hoffman,Anna Maria Cueto-González,Eduardo Fidel Tizzano,David Gómez-Andrés,Marta Codina-Solà,Athina Ververi,Efterpi Pavlidou,Alexandros Lambropoulos,Kyriakos Garganis,Marlène Rio,Jonathan Levy,Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard,Maria Daniela D'Agostino,Isabelle De Bie,Meret Wegler,Rami Abou Jamra,Susanne B Kamphausen,Viktoria Bothe,Larissa M Busch,Uwe Völker,Elke Hammer,Kristian Wende,Benjamin Cogné,Bertrand Isidor,Jens Meiler, Amélie Bosc-Rosati,Julien Marcoux,Marie-Pierre Bousquet,Jeremie Poschmann,Frédéric Laumonnier,Peter W Hildebrand,Evan E Eichler,Kirsty McWalter,Peter M Krawitz,Arnaud Droit,Ype Elgersma,Andreas M Grabrucker,Francois V Bolduc,Stéphane Bézieau,Frédéric Ebstein,Elke Krüger
medRxiv the preprint server for health sciences (2024)
Cited2Views0WOSBibtex
2
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P245: Oldest Reported Patients with RAB18 Deficiency Due to RAB3GAP1 Gene Mutations
Dmitriy Niyazov, Jane Juusola
Genetics in Medicine Open (2024): 101141
Cited0Views0Bibtex
0
0
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Author Statistics

#Papers: 56

#Citation: 3128

H-Index: 22

G-Index: 39

Sociability: 7

Diversity: 3

Activity: 3

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