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Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?
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Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Thiels, Charlotte ; Fleger, Martin ; Huemer, Martina ; Rodenburg, Richard J. ; Vaz, Frederic M. ; Houtkooper, Riekelt H. ; Haack, Tobias B. ; Prokisch, Holger ; Feichtinger, René G. ; Lücke, Thomas ; Mayr, Johannes A. ; Wortmann, Saskia B. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 29, 2016, Vol.29, p.89-93 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation
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MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

Finkenstedt, Armin ; Schranz, Melanie ; Bösch, Sylvia ; Karall, Daniela ; Bürgi, Sabine Scholl ; Ensinger, Christian ; Drach, Mathias ; Mayr, Johannes A. ; Janecke, Andreas R ; Vogel, Wolfgang ; Nachbaur, David ; Zoller, Heinz Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry

JIMD Reports - Volume 10, 2013, Vol.10, p.41-44 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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