检索结果 - Cinnamon, Yuval
- Showing 1 - 9 results of 9
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A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism 由 Edvardson, Simon, Cinnamon, Yuval, Ta-Shma, Asaf, Shaag, Avraham, Yim, Yang-In, Zenvirt, Shamir, Jalas, Chaim, Lesage, Suzanne, Brice, Alexis, Taraboulos, Albert, Kaestner, Klaus H., Greene, Lois E., Elpeleg, Orly
出版 2012Text -
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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia 由 Boczonadi, Veronika, Müller, Juliane S., Pyle, Angela, Munkley, Jennifer, Dor, Talya, Quartararo, Jade, Ferrero, Ileana, Karcagi, Veronika, Giunta, Michele, Polvikoski, Tuomo, Birchall, Daniel, Princzinger, Agota, Cinnamon, Yuval, Lützkendorf, Susanne, Piko, Henriett, Reza, Mojgan, Florez, Laura, Santibanez-Koref, Mauro, Griffin, Helen, Schuelke, Markus, Elpeleg, Orly, Kalaydjieva, Luba, Lochmüller, Hanns, Elliott, David J., Chinnery, Patrick F., Edvardson, Shimon, Horvath, Rita
出版 2014Text