Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Janette diMonda"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101079- (2024)
Externí odkaz:
https://doaj.org/article/9b7661ef3e4044bc8e3c84c270e053a8
Autor:
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F. Berkovic, Martin Broly, Patrick Callaerts, Raymond C. Caylor, Perrine Charles, Nicolas Chatron, Lior Cohen, Antonietta Coppola, Dawn Cordeiro, Claudia Cuccurullo, Ivon Cuscó, null Janette diMonda, Ramon Duran-Romaña, Nina Ekhilevitch, Paula Fernández-Alvarez, Christopher T. Gordon, Bertrand Isidor, Boris Keren, Gaetan Lesca, Jarymke Maljaars, Saadet Mercimek-Andrews, Michelle M. Morrow, Alison M. Muir, Frederic Rousseau, Vincenzo Salpietro, Ingrid E. Scheffer, Rhonda E. Schnur, Joost Schymkowitz, Erika Souche, Jean Steyaert, Elliot S. Stolerman, Jaime Vengoechea, Dorothée Ville, Camerun Washington, Karin Weiss, Rinat Zaid, Lynette G. Sadleir, Heather C. Mefford, Hilde Peeters
Publikováno v:
Genetics in Medicine. 24:2464-2474
KLHL20 is part of a CUL3-RING E3 ubiquitin ligase involved in protein ubiquitination. KLHL20 functions as the substrate adaptor that recognizes substrates and mediates the transfer of ubiquitin to the substrates. Although KLHL20 regulates neurite out
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8667d6e12377ca40b4af5f3614b402
https://doi.org/10.1016/j.gim.2022.08.020
https://doi.org/10.1016/j.gim.2022.08.020
Publikováno v:
In Genetics in Medicine Open 2024 2 Supplement 1
Autor:
Jaime Vengoechea, Janette diMonda
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0b191e0029957b1db47bd5f3f08f46f
https://pubmed.ncbi.nlm.nih.gov/32202700
https://pubmed.ncbi.nlm.nih.gov/32202700
Autor:
Damien Smedley, Hailey Pinz, Chiara Kloechner, Grazia M.S. Mancini, Anna de Burca, Christopher T. Gordon, Emilia K. Bijlsma, Rebecca Wilaert, Jonas Denecke, Ingo Helbig, Nicola Brunetti-Pierri, Martina Wilke, Katta M. Girisha, Parmeet Kaur, Jeanne Amiel, Janette diMonda, Rolph Pfundt, Maya Chopra, Maria Arelin, Julie Evans, Hermine E. Veenstra-Knol, Micheil Innes, Kyra E. Stuurman, Janvier Porta Pelayo, Ugur Hodoglugil, Meriel McEntagart, Rosan Lechner, Anupriya Kaur, Sam Amin, Sarah E McKeown, Maja Hempel, Tjitske Kleefstra, Michelle L. Thompson, Tiffany Yip, Maggie Williams, Amelia Kirby, Jane Juusola, Anna Lehman, Gerarda Capuccio, Frank Sleutels, Rami Abou Jamra, Konrad Platzer, William A. Weiss, Martina Bebin, Jennifer Semotok, Stanislas Lyonnet, Naomi Yachelevich, Anni Niskakoski, Juanita Neira, Anne Slavotinek, Cacha Peters-Scholte, Usha Kini, Medard Hadonou, Mariëtte J.V. Hoffer, Anju Shukla, Sajel Lala, John Short, Susanne B. Kamphausen, Katherine L. Helbig, Sarah F. Smithson, Fanny Kortüm, Sandra Yang, Jill Clayton-Smith, Amy Whittle, Alberto Fernández-Jaen
Publikováno v:
Molecular Genetics and Metabolism. 132:S99
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb68c45eeb0a5d839c708a94525f2105
https://doi.org/10.1016/s1096-7192(21)00233-x
https://doi.org/10.1016/s1096-7192(21)00233-x
Akademický článek
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