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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 4
2022
Has, Cristina; Hess, Moritz; Anemueller, Waltraud; Blume-Peytavi, Ulrike; Emmert, Steffen; Foelster-Holst, Regina; Frank, Jorge; Giehl, Kathrin; Guenther, Claudia; Hammersen, Johanna; Hillmann, Kathrin; Hoeflein, Bettina; Hoeger, Peter H.; Hotz, Alrun; Thuy, Anh Mai; Oji, Vinzenz; Schneider, Holm; Suessmuth, Kira; Tantcheva-Poor, Iliana; Thielking, Frederieke; Zirn, Birgit; Fischer, Judith und Reimer-Taschenbrecker, Antonia
(2022):
Epidemiology of inherited epidermolysis bullosa in Germany.
In: Journal of the European Academy of Dermatology and Venereology, Bd. 37, Nr. 2: S. 402-410
2020
Doering, Jan Henje; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G.; Kluger, Gerhard; Muhle, Hiltrud; Moller, Rikke S.; Platzer, Konrad; Santos, Joana Larupa; Bache, Iben; Bertsche, Astrid; Bonfert, Michaela; Borggraefe, Ingo; Broser, Philip J.; Datta, Alexandre N.; Hammer, Trine Bjorg; Hartmann, Hans; Hasse-Wittmer, Anette; Henneke, Marco; Kuehne, Hermann; Lemke, Johannes R.; Maier, Oliver; Matzker, Eva; Merkenschlager, Andreas; Opp, Joachim; Patzer, Steffi; Rostasy, Kevin; Stark, Birgit; Strzelczyk, Adam; Stülpnagel, Celina von; Weber, Yvonne; Wolff, Markus; Zirn, Birgit; Hoffmann, Georg Friedrich; Koelker, Stefan und Syrbe, Steffen
(2020):
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
In: Biomedicines, Bd. 8, Nr. 11, 456
2019
Geis, Tobias; Roedl, Tanja; Topaloglu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Müller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Hübner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute und Koelbel, Heike
(2019):
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
In: Orphanet Journal of Rare Diseases, Bd. 14, 179
2013
Wildhardt, Gabriele; Zirn, Birgit; Graul-Neumann, Luitgard M.; Wechtenbruch, Juliane; Suckfuell, Markus; Buske, Annegret; Bohring, Axel; Kubisch, Christian; Vogt, Stefanie; Strobl-Wildemann, Gertrud; Greally, Marie; Bartsch, Oliver und Steinberger, Daniela
(18. März 2013):
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
In: BMJ Open, Bd. 3, Nr. 3, e001917
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