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1 Ergebnisse
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encodi..:
Harel, Tamar
;
Yoon, Wan Hee
;
GARONE, CATERINA
...
info:eu-repo/semantics/altIdentifier/pmid/27640307. , 2016
Link:
http://hdl.handle.net/11585/588478
RT Journal T1
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
UL https://suche.suub.uni-bremen.de/peid=base-ftunibolognairis:oai:cris.unibo.it:11585_588478&Exemplar=1&LAN=DE A1 Harel, Tamar A1 Yoon, Wan Hee A1 GARONE, CATERINA A1 Gu, Shen A1 Coban Akdemir, Zeynep A1 Eldomery, Mohammad K A1 Posey, Jennifer E A1 Jhangiani, Shalini N A1 Rosenfeld, Jill A A1 Cho, Megan T A1 Fox, Stephanie A1 Withers, Marjorie A1 Brooks, Stephanie M A1 Chiang, Theodore A1 Duraine, Lita A1 Erdin, Serkan A1 Yuan, Bo A1 Shao, Yunru A1 Moussallem, Elie A1 Lamperti, Costanza A1 Donati, Maria A A1 Smith, Joshua D A1 Mclaughlin, Heather M A1 Eng, Christine M A1 Walkiewicz, Magdalena A1 Xia, Fan A1 PIPPUCCI, TOMMASO A1 MAGINI, PAMELA A1 SERI, MARCO A1 Zeviani, Massimo A1 Hirano, Michio A1 Hunter, Jill V A1 Srour, Myriam A1 ZANIGNI, STEFANO A1 Lewis, Richard Alan A1 Muzny, Donna M A1 Lotze, Timothy E A1 Boerwinkle, Eric A1 Gibbs, Richard A A1 Hickey, Scott E A1 Graham, Brett H A1 Yang, Yaping A1 Buhas, Daniela A1 Martin, Donna M A1 Potocki, Lorraine A1 GRAZIANO, CLAUDIO A1 Bellen, Hugo J A1 Lupski, James R YR 2016 K1 ATAD3A K1 cardiomyopathy K1 CNV K1 de novo variant K1 dominant negative K1 mitochondrial dynamic K1 neuropathy K1 optic atrophy K1 whole-exome sequencing K1 Genetic K1 Genetics (clinical) JF info:eu-repo/semantics/altIdentifier/pmid/27640307 LK http://hdl.handle.net/11585/588478 DO http://hdl.handle.net/11585/588478 SF ELIB - SuUB Bremen
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