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Asadollahi, Reza, Strauss, Justin E., Zenker, Martin, Beuing, Oliver ORCID: 0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M., Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula
ORCID: 0000-0001-8122-1427, Ekici, Arif B., Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael
ORCID: 0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T. and Rauch, Anita
ORCID: 0000-0003-2930-3163
(2018).
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Eur. J. Hum. Genet., 26 (2).
S. 197 - 210.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
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
Boegershausen, Nina, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Ozlem Simsek, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Percin, E. Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin
ORCID: 0000-0003-0683-9731, Kayserili, Hulya
ORCID: 0000-0003-0376-499X, Liu, Yicheng, Banka, Siddharth
ORCID: 0000-0002-8527-2210, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar
ORCID: 0000-0003-2812-6492, Elcioglu, Nursel, Prontera, Paolo
ORCID: 0000-0003-4960-9223, Lyonnet, Stanislas
ORCID: 0000-0001-5426-9417, Meitinger, Thomas
ORCID: 0000-0002-8838-8403, Stewart, A. Francis, Donnai, Dian, Strom, Tim M., Boduroglu, Koray
ORCID: 0000-0001-6260-1942, Yigit, Goekhan, Li, Yun, Katsanis, Nicholas and Wollnik, Bernd
(2015).
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J. Clin. Invest., 125 (9).
S. 3585 - 3600.
ANN ARBOR:
AMER SOC CLINICAL INVESTIGATION INC.
ISSN 1558-8238
Reschke, Madlen ORCID: 0000-0003-1706-1160, Biewald, Eva, Bronstein, Leo, Brecht, Ines B., Dittner-Moormann, Sabine, Driever, Frank, Ebinger, Martin
ORCID: 0000-0002-4229-8058, Fleischhack, Gudrun
ORCID: 0000-0001-5714-007X, Grabow, Desiree, Geismar, Dirk, Goricke, Sophia, Guberina, Maja, Le Guin, Claudia H. D., Kiefer, Tobias, Kratz, Christian P., Metz, Klaus, Muller, Bert, Ryl, Tatsiana, Schlamann, Marc, Schluter, Sabrina, Schonberger, Stefan
ORCID: 0000-0002-7222-296X, Schulte, Johannes H., Sirin, Selma
ORCID: 0000-0003-4555-0367, Susskind, Daniela, Timmermann, Beate, Ting, Saskia
ORCID: 0000-0003-1415-7714, Wackernagel, Werner, Wieland, Regina, Zenker, Martin, Zeschnigk, Michael, Reinhardt, Dirk
ORCID: 0000-0002-7027-4483, Eggert, Angelika
ORCID: 0000-0003-3476-8184, Ritter-Sovinz, Petra, Lohmann, Dietmar R., Bornfeld, Norbert, Bechrakis, Nikolaos and Ketteler, Petra
ORCID: 0000-0002-8138-0441
(2021).
Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria.
Cancers, 13 (8).
BASEL:
MDPI.
ISSN 2072-6694
Ripperger, Tim ORCID: 0000-0001-6470-8612, Bielack, Stefan S., Borkhardt, Arndt, Brecht, Ines B., Burkhardt, Birgit, Calaminus, Gabriele, Debatin, Klaus-Michael
ORCID: 0000-0002-8397-1886, Deubzer, Hedwig, Dirksen, Uta, Eckert, Cornelia, Eggert, Angelika, Erlacher, Miriam, Fleischhack, Gudrun, Fruehwald, Michael C., Gnekow, Astrid, Goehring, Gudrun, Graf, Norbert
ORCID: 0000-0002-2248-323X, Hanenberg, Helmut, Hauer, Julia, Hero, Barbara, Hettmer, Simone, von Hoff, Katja, Horstmann, Martin, Hoyer, Juliane, Illig, Thomas, Kaatsch, Peter, Kappler, Roland
ORCID: 0000-0002-8581-2803, Kerl, Kornelius, Klingebiel, Thomas, Kontny, Udo, Kordes, Uwe
ORCID: 0000-0001-6375-2320, Koerholz, Dieter, Koscielniak, Ewa, Kramm, Christof M., Kuhlen, Michaela, Kulozik, Andreas E., Lamottke, Britta, Leuschner, Ivo, Lohmann, Dietmar R.
ORCID: 0000-0002-2624-9889, Meinhardt, Andrea, Metzler, Markus
ORCID: 0000-0002-4523-1676, Meyer, Lder H., Moser, Olga, Nathrath, Michaela, Niemeyer, Charlotte M., Nustede, Rainer, Pajtler, Kristian W.
ORCID: 0000-0002-3562-6121, Paret, Claudia
ORCID: 0000-0002-9094-1634, Rasche, Mareike, Reinhardt, Dirk, Riess, Olaf, Russo, Alexandra, Rutkowski, Stefan, Schlegelberger, Brigitte, Schneider, Dominik, Schneppenheim, Reinhard, Schrappe, Martin, Schroeder, Christopher, von Schweinitz, Dietrich, Simon, Thorsten, Sparber-Sauer, Monika, Spix, Claudia, Stanulla, Martin
ORCID: 0000-0002-3834-0727, Steinemann, Doris, Strahm, Brigitte, Temming, Petra, Thomay, Kathrin, von Bueren, Andre O., Vorwerk, Peter, Witt, Olaf, Wlodarski, Marcin, Woessmann, Willy, Zenker, Martin, Zimmermann, Stefanie, Pfister, Stefan M. and Kratz, Christian P.
(2017).
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.
Am. J. Med. Genet. A, 173 (4).
S. 1017 - 1038.
HOBOKEN:
WILEY.
ISSN 1552-4833
Weber, Stefanie, Buescher, Anja K., Hagmann, Henning, Liebau, Max C., Heberle, Christian, Ludwig, Michael, Rath, Sabine, Alberer, Martin, Beissert, Antje, Zenker, Martin, Hoyer, Peter F., Konrad, Martin, Klein, Hanns-Georg and Hoefele, Julia ORCID: 0000-0002-7917-7129
(2016).
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.
Pediatr. Nephrol., 31 (1).
S. 73 - 82.
NEW YORK:
SPRINGER.
ISSN 1432-198X