![]() | Up a level |
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