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2022
Escherich, Carolin, Boetticher, Benedikt, Harmsen, Stefani, Hoemberg, Marc, Schaper, Joerg, Lorenz, Myriam Ricarda, Schwarz, Klaus, Borkhardt, Arndt and Oommen, Prasad Thomas (2022). The Growing Spectrum of DADA2 Manifestations-Diagnostic and Therapeutic Challenges Revisited. Front. Pediatr., 10. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-2360
Schmetz, Ariane 
ORCID: 0000-0001-8220-7854, Xiong, Xing ORCID: 0000-0001-5728-150X, Cesarato, Nicole, Basmanav, Fitnat Buket, Gierthmuehlen, Petra, Schaper, Joerg, Schlieper, Daniel, Wehner, Maria, Thiele, Holger, Frank, Jorge, Betz, Regina C. and Redler, Silke
(2022).
Phenotype diversity associated with TP63 mutations.
J. Dtsch. Dermatol. Ges., 20 (6).
S. 872 - 876.
HOBOKEN:
WILEY.
ISSN 1610-0387
2019
Preising, Markus N., Goerg, Boris, Friedburg, Christoph, Qvartskhava, Natalia, Budde, Birgit S., Bonus, Michele, Toliat, Mohammad R., Pfleger, Christopher, Altmueller, Janine, Herebian, Diran ORCID: 0000-0002-8528-0122, Beyer, Mila, Zoellner, Helge J., Wittsack, Hans-Joerg, Schaper, Joerg, Klee, Dirk, Zechner, Ulrich, Nuernberg, Peter, Schipper, Joerg, Schnitzler, Alfons, Gohlke, Holger, Lorenz, Birgit ORCID: 0000-0002-9737-8127, Haeussinger, Dieter and Bolz, Hanno J.
(2019).
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Faseb J., 33 (10).
S. 11507 - 11528.
BETHESDA:
FEDERATION AMER SOC EXP BIOL.
ISSN 1530-6860
2018
van de Loo, Karoline, Balzer, Stefan, MacKenzie, Colin R., Boemers, Thomas M., Ortmann, Monika, Schaper, Joerg, Borkhardt, Arndt, Laws, Hans-Juergen and Kuhlen, Michaela (2018). Lymphnode tuberculosis in a 4-year-old boy with relapsed ganglioneuroblastoma: a case report. BMC Infect. Dis., 18. LONDON: BMC. ISSN 1471-2334