Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Heyko Skladny"'
Autor:
Millan S. Patel, Halenur Yavuz-Kienle, Alicia P Acyinena, Diane Myles-Reid, Tim Van Mieghem, Anna M. Cueto-González, Causes Study, Susan Blaser, Miereia D T Riera, Silvia A Martínez, Shannon Rego, Walter Patrick Devine, Patrick Shannon, Karen Chong, Heyko Skladny, Sally L. Dunwoodie, Gavin Chapman, Justin O. Szot, Oliver Brandau, Dimitri J. Stavropoulos, Anne Slavotinek, Eduardo F. Tizzano, Alison M. Elliott, Vanda McNiven, Lucie Dupuis, Marjan M. Nezarati, Robert S. Phillips, Kristen Miller, Roberto Mendoza-Londono
Publikováno v:
Human mutation, 42(7), 862-876. Wiley-Liss Inc.
Hum Mutat
Hum Mutat
Nicotinamide adenine dinucleotide (NAD) is an essential cofactor involved in over 400 cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary L-tryptophan via the kynurenine pathway. Biallelic, inactivating variants in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cb52f60e935bbd489940ccdd80426e3
https://doi.org/10.1002/humu.24211
https://doi.org/10.1002/humu.24211
Autor:
Asuman Koparir, Mustafa Ozen, Omer Faruk Karatas, Heyko Skladny, Hatip Aydin, Erkan Koparir, Elif Fenercioglu, Gülgün S. Güven, Alper Gezdirici, Mehmet Seven, Hakan Ulucan
Publikováno v:
Clinical Dysmorphology. 23:1-7
Dyggve-Melchior-Clausen syndrome (DMC) (MIM #223800) is a rare autosomal-recessive type of skeletal dysplasia accompanied by variable degrees of intellectual disability (ID). It is characterized by progressive spondyloepimetaphyseal dysplasia leading
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8bdef6338a92910b27756ced60fddab
https://doi.org/10.1097/mcd.0000000000000020
https://doi.org/10.1097/mcd.0000000000000020
Autor:
Friedrich Cremer, Katja von Hoff, Rene Schmidt, Carsten Friedrich, J Felsberg, Marc Remke, Andrey Korshunov, Heyko Skladny, G. Reifenberger, Stefan Rutkowski, Tobias Goschzik, Volker Hovestadt, Stefan M. Pfister, Michael D. Taylor, M Kool, Torsten Pietsch, Paul A. Northcott, Kerstin Kaulich, Gudrun Fleischhack, André O. von Bueren, David T.W. Jones, Peter Lichter, Andreas Faldum
BACKGROUND: This study aimed to prospectively evaluate clinical, histopathological and molecular variables for outcome prediction in medulloblastoma patients. METHODS: Patients from the HIT2000 cooperative clinical trial were prospectively enrolled b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea755e4529666703479fa04a96e7bfea
https://europepmc.org/articles/PMC4144619/
https://europepmc.org/articles/PMC4144619/
Autor:
Barbara Thamm-Mücke, Sabine Purmann, Alessandra Baumer, Heyko Skladny, Cornelia Kraus, Peter M. Kroisel, Gabriele Sander, Lothar Kochhan, Roland Achmann, Bernd Dworniczak, Stephanie Kleinle, Bernhard Horsthemke, Dieter Gläser, Joachim Burger, Christa Aulehla-Scholz, Ernst Krasemann, Bart Janssen, Eva Spitzer, Elke Holinski-Feder, Helga Weirich, Hansjörg Plendl, Karin Buiting, Christina Lich, Raymonda Varon-Mateeva, Andreas Weinhäusel
Publikováno v:
European Journal of Human Genetics. 11:913-915
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3a8e885e23c1b2d220ed88b72ec8853
https://doi.org/10.1038/sj.ejhg.5201078
https://doi.org/10.1038/sj.ejhg.5201078
Autor:
Dieter, Buchheidt, Corinna, Baust, Heyko, Skladny, Michael, Baldus, Susanne, Bräuninger, Rüdiger, Hehlmann
Publikováno v:
British journal of haematology. 116(4)
The increasing incidence of invasive aspergillosis, a life-threatening infection in immunocompromised patients, emphasizes the need to improve the currently limited diagnostic tools. Using a recently developed two-step polymerase chain reaction (PCR)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::87927d87560ca07276e03446336623d3
https://pubmed.ncbi.nlm.nih.gov/11886384
https://pubmed.ncbi.nlm.nih.gov/11886384
Publikováno v:
Microbiology (Reading, England). 147(Pt 8)
Alternative sigma factors have been detected in the myxobacterium Stigmatella aurantiaca during indole-induced sporulation, fruiting body formation and heat shock using an antiserum raised against sigma factor SigB. The time course of sigB gene expre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f5a9cf21e1e4632a9edc325ac127c770
https://pubmed.ncbi.nlm.nih.gov/11496003
https://pubmed.ncbi.nlm.nih.gov/11496003
Autor:
Volker Hovestadt, Stefan Rutkowski, David T.W. Jones, Andreas Faldum, Rene Schmidt, Michael D. Taylor, Paul A. Northcott, Marcel Kool, Torsten Pietsch, Gudrun Fleischhack, Marc Remke, Stefan M. Pfister, André O. von Bueren, Peter Lichter, Heyko Skladny, Friedrich Cremer, Carsten Friedrich, Tobias Goschzik, Katja von Hoff, Jörg Felsberg, Andrey Korshunov, Guido Reifenberger, Martin Mynarek, Kerstin Kaulich
Publikováno v:
Acta Neuropathologica
This study aimed to prospectively evaluate clinical, histopathological and molecular variables for outcome prediction in medulloblastoma patients. Patients from the HIT2000 cooperative clinical trial were prospectively enrolled based on the availabil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0976cb49cd65dcaf4e944550449c8b75