Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Guido, Vogt"'
Autor:
Sarah Verheyen, Denise Horn, Manuel Holtgrewe, Cornelia Potratz, Uwe Kornak, Stefan Mundlos, Björn Fischer-Zirnsak, Jasmin Blatterer, Felix Boschann, Guido Vogt, Nadja Ehmke, Sarina Schwartzmann, Michael R. Speicher, Anette Schwerin-Nagel, Barbara Plecko, Dominik Seelow
Publikováno v:
Journal of Medical Genetics. 59:662-668
BackgroundGenes implicated in the Golgi and endosomal trafficking machinery are crucial for brain development, and mutations in them are particularly associated with postnatal microcephaly (POM).MethodsExome sequencing was performed in three affected
Autor:
Uwe Kornak, Sabine Krause, Björn Fischer-Zirnsak, Markus Schuelke, Rita Horvath, Andreas Roos, Stefan Mundlos, Veronika Karcagi, Manuel Holtgrewe, Hanns Lochmüller, Guido Vogt, Ulrike Schara, Anja Lekaj, Naji El Choubassi, Heike Kölbel, Christoph Hübner, Agnes Herczegfalvi
Publikováno v:
Journal of Inherited Metabolic Disease
Background Several inborn errors of metabolism show cutis laxa as a highly recognizable feature. One group of these metabolic cutis laxa conditions is autosomal recessive cutis laxa type 2 caused by defects in v-ATPase components or the mitochondrial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eb3cf064b01093cd9f7f02c4d08dbbb
https://www.repository.cam.ac.uk/handle/1810/325596
https://www.repository.cam.ac.uk/handle/1810/325596
Autor:
Guido, Vogt, Sarah, Verheyen, Sarina, Schwartzmann, Nadja, Ehmke, Cornelia, Potratz, Anette, Schwerin-Nagel, Barbara, Plecko, Manuel, Holtgrewe, Dominik, Seelow, Jasmin, Blatterer, Michael R, Speicher, Uwe, Kornak, Denise, Horn, Stefan, Mundlos, Björn, Fischer-Zirnsak, Felix, Boschann
Publikováno v:
Journal of medical genetics. 59(7)
Genes implicated in the Golgi and endosomal trafficking machinery are crucial for brain development, and mutations in them are particularly associated with postnatal microcephaly (POM).Exome sequencing was performed in three affected individuals from
Autor:
Lars Wittler, Marion Rivalan, Julika Pitsch, Peter N. Robinson, Albert J. Becker, Melissa Long, Despina Tsortouktzidis, Anne Voigt, Björn Fischer-Zirnsak, Stefan Mundlos, Guido Vogt, Peter Krawitz, York Winter, Uwe Kornak, Dietmar Schmitz, Karl Schilling, Alexej Knaus, Miguel Rodriguez de los Santos, Laura Moreno Velasquez, Denise Horn, Bernd Timmermann, Daniele Mattei, Alexander Stumpf, Friederike S. David
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Inherited GPI-anchor biosynthesis deficiencies (IGDs) explain many cases of syndromic intellectual disability. Although diagnostic methods are improving, the pathophysiology underlying the disease remains unclear. Furthermore, we lack ro
Autor:
Guido Vogt
Publikováno v:
Fernsehsender beraten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d045114d706d1371b445215a5c8ab858
https://doi.org/10.5771/9783845290188-130
https://doi.org/10.5771/9783845290188-130