UR Home
Entries of Bier, Andrea on the publication server
 | Up a level |
Number of items: 2.
2016
Di Donato, N., Neuhann, T., Kahlert, A.-K., Klink, B., Hackmann, K., Neuhann, I., Weber, Bernhard H. F. 
, Schrock, Evelin, Dobyns, William B. , Bier, Andrea and Rump, Andreas
(2016)
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Journal of Medical Genetics 53 (6), pp. 419-425.
Fulltext not available.
, Schrock, Evelin, Dobyns, William B. , Bier, Andrea and Rump, Andreas
(2016)
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Journal of Medical Genetics 53 (6), pp. 419-425.
Fulltext not available.
2007
Krüger, Stefan, Engel, Christoph , Bier, Andrea, Silber, Ann-Sophie, Görgens, Heike, Mangold, Elisabeth, Pagenstecher, Constanze, Holinski-Feder, Elke, von Knebel Doeberitz, Magnus, Royer-Pokora, Brigitte, Dechant, Stefan, Pox, Christian, Rahner, Nils, Müller, Annegret and Schackert, Hans K.
(2007)
The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.
Cancer Letters 252 (1), pp. 55-64.
Fulltext not available.
, Bier, Andrea, Silber, Ann-Sophie, Görgens, Heike, Mangold, Elisabeth, Pagenstecher, Constanze, Holinski-Feder, Elke, von Knebel Doeberitz, Magnus, Royer-Pokora, Brigitte, Dechant, Stefan, Pox, Christian, Rahner, Nils, Müller, Annegret and Schackert, Hans K.
(2007)
The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.
Cancer Letters 252 (1), pp. 55-64.
Fulltext not available.
University Library
Publication Server
Contact:
Publishing: oa@ur.de
0941 943 -4239 or -69394
Dissertations: dissertationen@ur.de
0941 943 -3904
Research data: datahub@ur.de
0941 943 -5707