Risultati della ricerca - N Utzig
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1
Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita di Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo, Sébastien Jacquemont, Paulien A. Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordaß, Richard Webster, Margje Sinnema, Omar Abdul‐Rahman, Vanessa Suckow, Alberto Fernández‐Jaén, Kees van Roozendaal, Servi J.C. Stevens, Merryn Macville, Salwan Al‐Nasiry, Koen L.I. van Gassen, N Utzig, Suzanne M. Koudijs, Lesley McGregor, Saskia M. Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S. Lee, Elizabeth C. Engle, Gunnar Houge, Gyri Aasland Gradek, Andrew G. L. Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C. M. Hennekam, Hiromi Hirata, Vera M. Kalscheuer
Pubblicazione 2019Artigo -
2
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome di Eva Wendel, Helen Sophie Thonke, Annikki Bertolini, Matthias Baumann, Astrid Blaschek, Andreas Merkenschlager, Michael Karenfort, Barbara Kornek, Christian Lechner, Daniela Pohl, Martin Pritsch, Kathrin Schanda, Mareike Schimmel, Charlotte Thiels, Stephan Waltz, Gert Wiegand, Banu Anlar, Nina Barišić, Christian U. Blank, Markus Breu, Philip J. Broser, Adela Della Marina, Katharina Diepold, Matthias Eckenweiler, Astrid Eisenkölbl, Michael Freilinger, U Gruber‐Sedlmayr, Annette Hackenberg, T. Iff, Ellen Knierim, Johannes Koch, G Kutschke, Steffen Leiz, Grischa Lischetzki, Margherita Nosadini, Alexander Pschibul, Edith Reiter‐Fink, Doris Rohrbach, Michela Salandin, Stefano Sartori, Jan-Ulrich Schlump, Johannes Stoffels, Jurgis Strautmanis, Daniel Tibussek, Victoria Tüngler, N Utzig, Markus Reindl, Kevin Rostásy
Pubblicazione 2022Artigo
Strumenti per la ricerca:
Soggetti correlati
Acute disseminated encephalomyelitis
Arthrogryposis
Arthrogryposis multiplex congenita
Biology
Encephalomyelitis
Experimental autoimmune encephalomyelitis
Frameshift mutation
Gene
Genetics
Immunology
Medicine
Missense mutation
Multiple sclerosis
Myelin oligodendrocyte glycoprotein
Neuromyelitis optica
Nonsense
Optic neuritis
Pediatrics
Phenotype
Transverse myelitis