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2022
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
2020
Ganapathi, Mythily ORCID: 0000-0003-2834-0843, Argyriou, Loukas, Martinez-Azorin, Francisco
ORCID: 0000-0001-6250-7745, Morlot, Susanne, Yigit, Gokhan, Lee, Teresa M., Auber, Bernd, von Gise, Alexander, Petrey, Donald S., Thiele, Holger
ORCID: 0000-0002-0169-998X, Cyganek, Lukas
ORCID: 0000-0001-9120-1382, Sabater-Molina, Maria
ORCID: 0000-0003-1352-1748, Ahimaz, Priyanka, Cabezas-Herrera, Juan, Sorli-Garcia, Moises, Zibat, Arne, Siegelin, Markus D., Burfeind, Peter, Buchovecky, Christie M., Hasenfuss, Gerd, Honig, Barry, Li, Yun, Iglesias, Alejandro D. and Wollnik, Bernd
(2020).
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Hum. Genet., 139 (11).
S. 1443 - 1455.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Koch, Claudia, Kuske, Andra, Joosse, Simon A., Yigit, Goekhan, Sflomos, George ORCID: 0000-0003-2972-0549, Thaler, Sonja, Smit, Daniel J.
ORCID: 0000-0002-3190-9511, Werner, Stefan, Borgmann, Kerstin, Gaertner, Sebastian, Mossahebi Mohammadi, Parinaz, Battista, Laura, Cayrefourcq, Laure, Altmueller, Janine, Salinas-Riester, Gabriela, Raithatha, Kaamini, Zibat, Arne, Goy, Yvonne, Ott, Leonie
ORCID: 0000-0002-6308-0242, Bartkowiak, Kai, Tan, Tuan Zea, Zhou, Qing, Speicher, Michael R., Mueller, Volkmar, Gorges, Tobias M., Juecker, Manfred, Thiery, Jean-Paul, Brisken, Cathrin, Riethdorf, Sabine, Alix-Panabieres, Catherine and Pantel, Klaus
(2020).
Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity.
EMBO Mol. Med., 12 (9).
HOBOKEN:
WILEY.
ISSN 1757-4684