Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Saskia Wortmann"'
Publikováno v:
Acta Dermato-Venereologica, Vol 101, Iss 11 (2021)
Abstract is missing (Quiz)
Externí odkaz:
https://doaj.org/article/f8cdf081c7364ad8bc3b8c32aa9ee762
Autor:
Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with
Externí odkaz:
https://doaj.org/article/129e2104cafd486f9cf68aead98de16c
Autor:
Frederik Braun, Andreas Hentschel, Albert Sickmann, Theodore Marteau, Swantje Hertel, Fabian Förster, Holger Prokisch, Matias Wagner, Saskia Wortmann, Adela Della Marina, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 15, p 7835 (2021)
Mutations in the SPATA5 gene are associated with epilepsy, hearing loss and mental retardation syndrome (EHLMRS). While SPATA5 is ubiquitously expressed and is attributed a role within mitochondrial morphogenesis during spermatogenesis, there is only
Externí odkaz:
https://doaj.org/article/425d2a60298143358a2ef8a05cbbf3ca
Autor:
Georg F. Vogel, Yael Mozer-Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger, Johannes A. Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S. Alkuraya, Joshua J. Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M. Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A. Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D. Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W. Taylor, David R. Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann
Publikováno v:
Genetics in Medicine, 25, 6
Genet. Med., 100314 (2022)
Genetics in Medicine, 25
Genet. Med., 100314 (2022)
Genetics in Medicine, 25
Purpose: The study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and to determine the role of cysteine supplementation in its treatment. Meth
Autor:
Frederik, Braun, Andreas, Hentschel, Albert, Sickmann, Theodore, Marteau, Swantje, Hertel, Fabian, Förster, Holger, Prokisch, Matias, Wagner, Saskia, Wortmann, Adela, Della Marina, Heike, Kölbel, Andreas, Roos, Ulrike, Schara-Schmidt
Publikováno v:
Int. J. Mol. Sci. 22:7835 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 15
International Journal of Molecular Sciences, Vol 22, Iss 7835, p 7835 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 15
International Journal of Molecular Sciences, Vol 22, Iss 7835, p 7835 (2021)
Mutations in the SPATA5 gene are associated with epilepsy, hearing loss and mental retardation syndrome (EHLMRS). While SPATA5 is ubiquitously expressed and is attributed a role within mitochondrial morphogenesis during spermatogenesis, there is only
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::595ad329dd7fe57850ae3f54b168820b
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62665
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62665
Autor:
Sebastian, Roesch, Emanuele, Bernardinelli, Saskia, Wortmann, Johannes A, Mayr, Ingrid, Bader, Gregor, Schweighofer-Zwink, Gerd, Rasp, Silvia, Dossena
Publikováno v:
Laryngo- rhino- otologie. 99(12)
Due to development of molecular techniques at hand, the number of genomic sequence variants detected in patient investigations is rising constantly. The number of potentially involved genes in hereditary hearing loss is rising simultaneously.In this
Autor:
Andreas Ziegler, Georg F. Hoffmann, Annick Klabunde-Cherwon, Steffen Syrbe, Stefan Kölker, Saskia Wortmann-Hagemann, Holger Prokisch
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Autor:
Christina Rüsch, Saskia Wortmann, Reka Kovacs-Nagy, Patrice Grehten, Johannes Häberle, Bea Latal, Georg Stettner
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.