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Number of items: 4.

Journal Article

Arjona, Francisco J., de Baaij, Jeroen H. F., Schlingmann, Karl P., Lameris, Anke L. L., van Wijk, Erwin, Flik, Gert ORCID: 0000-0001-9285-7957, Regele, Sabrina, Korenke, G. Christoph, Neophytou, Birgit, Rust, Stephan, Reintjes, Nadine, Konrad, Martin, Bindels, Rene J. M. and Hoenderop, Joost G. J. (2014). CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with. PLoS Genet., 10 (4). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Bartram, Malte P., Mishra, Tripti, Reintjes, Nadine, Fabretti, Francesca, Gharbi, Hakam, Adam, Alexander C., Goebel, Heike, Franke, Mareike, Schermer, Bernhard ORCID: 0000-0002-5194-9000, Haneder, Stefan, Benzing, Thomas, Beck, Bodo B. and Mueller, Roman-Ulrich (2017). Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. BMC Med. Genet., 18. LONDON: BIOMED CENTRAL LTD. ISSN 1471-2350

Ebner, Kathrin, Reintjes, Nadine, Feldkoetter, Markus, Koerber, Friederike, Nagel, Mato, Doetsch, Joeg, Hoppe, Bernd, Weber, Lutz Thorsten, Beck, Bodo B. and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2017). A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome. Clin. Nephrol., 88 (1). S. 45 - 52. DEISENHOFEN-MUENCHEN: DUSTRI-VERLAG DR KARL FEISTLE. ISSN 0301-0430

Moosa, Shahida ORCID: 0000-0002-4463-3067, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sergio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, de Menezes, Hamilton Cabral, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Jr., Bezerra Carniero, Tulio Canella, Giunta, Cecilia ORCID: 0000-0002-9313-8257, Rohrbach, Marianne ORCID: 0000-0002-4013-6012, Janner, Marco, Semler, Oliver, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Li, Yun, Yigit, Goekhan, Reintjes, Nadine, Altmueller, Janine, Nuernberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd and Netzer, Christian (2019). Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am. J. Hum. Genet., 105 (4). S. 836 - 844. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

This list was generated on Fri Nov 22 19:29:50 2024 CET.