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Journal Article
Ali, Noelle, Baumann, Christoph, Kroner, Juliana de Castro, Friedrich, Heike C., Haas, Katharina, Klaeschen, Anna Sophie, Pfaff, Carolina, Plesser, Kristin, Pollet, Marius, Schmidt, Julia, Schneeweiss, Maria, Siewert, Martina M., Stock, Martin, Sucker, Nadine, Uestuen, Yasemin, Vollmer, Verena, Wachsmuth, Emmi, Wang, Jing, Schilling, Bastian ORCID: 0000-0001-8859-4103, Fabri, Mario, Loser, Karin and Eming, Sabine A.
(2016).
Round Table- new concept of the Arbeitsgemeinschaft Dermatologische Forschung to foster regional exchange between young clinician scientists in dermatology.
Exp. Dermatol., 25 (10).
S. 827 - 829.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1600-0625
Boegershausen, Nina, Krawczyk, Hannah E., Jamra, Rami A., Lin, Sheng-Jia ORCID: 0000-0002-7559-6529, Yigit, Goekhan, Huening, Irina, Polo, Anna M., Vona, Barbara
ORCID: 0000-0002-6719-3447, Huang, Kevin
ORCID: 0000-0002-2512-7812, Schmidt, Julia, Altmueller, Janine, Luppe, Johannes, Platzer, Konrad, Doergeloh, Beate B., Busche, Andreas, Biskup, Saskia, Mendes, Marisa, I, Smith, Desiree E. C., Salomons, Gajja S., Zibat, Arne, Bueltmann, Eva, Nuernberg, Peter, Spielmann, Malte, Lemke, Johannes R., Li, Yun, Zenker, Martin, Varshney, Gaurav K.
ORCID: 0000-0002-0429-1904, Hillen, Hauke S., Kratz, Christian P. and Wollnik, Bernd
ORCID: 0000-0003-2589-0364
(2022).
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Hum. Mutat., 43 (10).
S. 1454 - 1472.
HOBOKEN:
WILEY.
ISSN 1098-1004
Brunn, Anna, Mihelcic, Mirna ORCID: 0000-0002-8241-1721, Carstov, Mariana, Feind, Lisa, Wieser, Eva C., Schmidt, Julia, Utermoehlen, Olaf and Deckert, Martina
(2017).
Toll-Like Receptor 2, Toll-Like Receptor 4, Myeloid Differentiation Response Gene 88, and Toll-IL-1 Receptor Domain-Containing Adaptor-Inducing Interferon-gamma (TRIF) Selectively Regulate Susceptibility of PO106-125-Induced Murine Experimental Autoimmune Neuritis.
Am. J. Pathol., 187 (1).
S. 42 - 55.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1525-2191
Schmidt, Julia, Dreha-Kulaczewski, Steffi, Zafeiriou, Maria-Patapia, Schreiber, Marie-Kristin, Wilken, Bernd, Funke, Rudolf, Neuhofer, Christiane M. ORCID: 0000-0002-5037-4444, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Biskup, Saskia, Li, Yun, Zimmermann, Wolfram Hubertus, Kaulfuss, Silke, Yigit, Goekhan and Wollnik, Bernd
(2022).
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Front. Cell. Dev. Biol., 10.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 2296-634X
Schmidt, Julia ORCID: 0000-0002-5942-2924, Goergens, Jonas, Pochechueva, Tatiana, Kotter, Annika, Schwenzer, Niko, Sitte, Maren, Werner, Gesa, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Isensee, Joerg, Li, Yun, Mueller, Christian, Leube, Barbara, Reinhardt, H. Christian, Hucho, Tim
ORCID: 0000-0002-4147-9308, Salinas, Gabriela, Helm, Mark, Jachimowicz, Ron D., Wieczorek, Dagmar, Kohl, Tobias, Lehnart, Stephan E., Yigit, Goekhan and Wollnik, Bernd
ORCID: 0000-0003-2589-0364
(2021).
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Hum. Genet., 140 (12).
S. 1679 - 1694.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Schmidt, Julia ORCID: 0000-0002-5942-2924, Schreiber, Gudrun, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Li, Yun, Kaulfuss, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Goekhan and Wollnik, Bernd
ORCID: 0000-0003-2589-0364
(2022).
Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Eur. J. Hum. Genet., 30 (2).
S. 211 - 219.
LONDON:
SPRINGERNATURE.
ISSN 1476-5438
Schons, Maximilian ORCID: 0000-0002-4317-3484, Pilgram, Lisa
ORCID: 0000-0002-1020-0650, Reese, Jens-Peter, Stecher, Melanie, Anton, Gabriele
ORCID: 0000-0003-0483-892X, Appel, Katharina S.
ORCID: 0000-0002-3760-6992, Bahmer, Thomas, Bartschke, Alexander
ORCID: 0000-0002-5849-482X, Bellinghausen, Carla, Bernemann, Inga, Brechtel, Markus, Brinkmann, Folke
ORCID: 0000-0002-4307-4232, Bruenn, Clara, Dhillon, Christine, Fiessler, Cornelia, Geisler, Ramsia
ORCID: 0000-0002-1777-9116, Hamelmann, Eckard, Hansch, Stefan, Hanses, Frank, Hanss, Sabine
ORCID: 0000-0002-9133-8685, Herold, Susanne, Heyder, Ralf, Hopff, Sina Marie
ORCID: 0000-0002-8886-4596, Horn, Anna, Jakob, Carolin, Keil, Thomas, Khodamoradi, Yascha
ORCID: 0000-0001-5972-0967, Kohls, Mirjam, Kraus, Monika
ORCID: 0000-0003-4825-8724, Krefting, Dagmar, Kunze, Sonja, Kurth, Florian
ORCID: 0000-0002-3807-473X, Lieb, Wolfgang, Lippert, Lena Johanna, Lorbeer, Roberto, Maetzler, Corina, Miljukov, Olga, Nauck, Matthias, Pape, Daniel, Puntmann, Valentina, Reinke, Lennart, Roemmele, Christoph, Rudolph, Stefanie, Sass, Julian
ORCID: 0000-0002-2068-7765, Schaefer, Christian, Schaller, Jens
ORCID: 0000-0002-9399-1653, Schattschneider, Mario, Scheer, Christian, Scherer, Margarete, Schmidt, Sein, Schmidt, Julia, Seibel, Kristina, Stahl, Dana, Steinbeis, Fridolin, Stoerk, Stefan, Tauchert, Maike, Tebbe, Johannes Josef, Thibeault, Charlotte, Toepfner, Nicole, Ungethuem, Kathrin, Vadasz, Istvan
ORCID: 0000-0003-1370-9783, Valentin, Heike, Wiedmann, Silke, Zoller, Thomas
ORCID: 0000-0002-9797-1692, Nagel, Eike, Krawczak, Michael, von Kalle, Christof
ORCID: 0000-0001-9221-3297, Illig, Thomas, Schreiber, Stefan, Witzenrath, Martin, Heuschmann, Peter and Vehreschild, Jorg Janne
ORCID: 0000-0002-5446-7170
(2022).
The German National Pandemic Cohort Network (NAPKON): rationale, study design and baseline characteristics.
Eur. J. Epidemiol., 37 (8).
S. 849 - 871.
DORDRECHT:
SPRINGER.
ISSN 1573-7284