Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Roswitha, Plank"'
Autor:
Katja M. Eckl, Robert Gruber, Louise Brennan, Andrew Marriott, Roswitha Plank, Verena Moosbrugger-Martinz, Stefan Blunder, Anna Schossig, Janine Altmüller, Holger Thiele, Peter Nürnberg, Johannes Zschocke, Hans Christian Hennies, Matthias Schmuth
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Keratosis follicularis spinulosa decalvans (KFSD) is a rare cornification disorder with an X-linked recessive inheritance in most cases. Pathogenic variants causing X-linked KFSD have been described in MBTPS2, the gene for a membrane-bound zinc metal
Externí odkaz:
https://doaj.org/article/115b6a3d158f4d4b9e780b5eee8094b7
Autor:
Dulce Lima Cunha, Verena Moosbrugger-Martinz, Sarah Hedtrich, Guy Yealland, Sari Thomforde, Roswitha Plank, Patrick Graff, Marcelo Calderón, Enrico Miceli, Hans Christian Hennies, Katja Martina Eckl, Robert Gruber
Publikováno v:
Journal of Investigative Dermatology. 139:1191-1195
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59aa2632dada56f71f4901171e1b86b
https://doi.org/10.1016/j.jid.2018.11.002
https://doi.org/10.1016/j.jid.2018.11.002
Autor:
Sebastian Fuchs, Ingeborg Krägeloh-Mann, Katja Martina Eckl, Kai Lehmberg, Ansgar Schulz, Julia Bank, Gillian M. Griffiths, Peter Nürnberg, Roswitha Plank, Udo zur Stadt, Klaus Niethammer, Stephan Ehl, Holger Thiele, Hans Christian Hennies, Sandra Ammann, Horst von Bernuth, Nele M. G. Dieckmann, Roland Werner, Janine Altmüller, Samantha Grieve, Anne Strauss
Publikováno v:
Blood
Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently associated with albinism. We studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generaliz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::024db1953f651af41af9fcdebf493a84
https://doi.org/10.1182/blood-2015-09-671636
https://doi.org/10.1182/blood-2015-09-671636
Autor:
Dulce, Lima Cunha, Omar Mohammed, Alakloby, Robert, Gruber, Naseebullah, Kakar, Jamil, Ahmad, Salem, Alawbathani, Roswitha, Plank, Katja, Eckl, Birgit, Krabichler, Janine, Altmüller, Peter, Nürnberg, Johannes, Zschocke, Guntram, Borck, Matthias, Schmuth, Adnan S, Alabdulkareem, Kholood, Abdulaziz Alnutaifi, Hans Christian, Hennies
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::95a2c7ab05d6912a3a388ed5489bf6c7
https://pubmed.ncbi.nlm.nih.gov/30600594
https://pubmed.ncbi.nlm.nih.gov/30600594
Autor:
Guy Yealland, Katja Obst, Hans Christian Hennies, Marcelo Calderón, Katja Martina Eckl, Roswitha Plank, Sarah Hedtrich
Publikováno v:
Proceedings of the World Congress on Recent Advances in Nanotechnology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f826a0561a3c25a018857a3dcb161126
https://doi.org/10.11159/nddte16.105
https://doi.org/10.11159/nddte16.105
Autor:
Wolfgang Friess, Katja Obst, Madeleine Witting, Maria Molina, Roswitha Plank, Katja Martina Eckl, Sarah Hedtrich, Marcelo Calderón, Hans Christian Hennies
Publikováno v:
Nanomedicine : nanotechnology, biology, and medicine. 11(5)
Genetic skin diseases caused by mutations resulting in diminished protein synthesis could benefit from local substitution of the missing protein. Proteins, however, are excluded from topical applications due to their physicochemical properties. We pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3309e91cd3614b2ffa695dfdffbde62
https://pubmed.ncbi.nlm.nih.gov/25791808
https://pubmed.ncbi.nlm.nih.gov/25791808
Publikováno v:
European Journal of Epidemiology. 13:145-149
The dependence of immunization coverage of children in the municipalities of Vienna and Klagenfurt on the sociodemographic variables of their parents is investigated. According to the Austrian vaccination program, the following vaccinations are recom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1da7a08f71d8c0c52febe83face63a5
https://doi.org/10.1023/a:1007359632218
https://doi.org/10.1023/a:1007359632218