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Number of items: 3.

Journal Article

Gangfuss, Andrea ORCID: 0000-0002-9975-0092, Yigit, Goekhan, Altmueller, Janine, Nuernberg, Peter, Czeschik, Johanna Christina, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Boegershausen, Nina, Burfeind, Peter, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Kaiser, Frank, Roos, Andreas, Koelbel, Heike, Schara-Schmidt, Ulrike and Kuechler, Alma (2021). Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study. Am. J. Med. Genet. A, 185 (4). S. 1216 - 1222. HOBOKEN: WILEY. ISSN 1552-4833

Schorling, David C., Koelbel, Heike, Hentschel, Andreas, Pechmann, Astrid, Meyer, Nancy, Wirth, Brunhilde, Rombo, Roman, Sickmann, Albert, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schara-Schmidt, Ulrike, Lochmuller, Hanns and Roos, Andreas (2022). Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy. Eur. J. Neurol., 29 (7). S. 2084 - 2097. HOBOKEN: WILEY. ISSN 1468-1331

Spitali, Pietro ORCID: 0000-0003-2783-688X, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca ORCID: 0000-0002-3075-6525, McDonald, Craig M., Hoffman, Eric P., Koeks, Zaida, Suchiman, H. Eka, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A. C., Niks, Erik H., Tuffery-Giraud, Sylvie, Lochmueller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke, Dubrovsky, Alberto, Kornberg, Andrew, North, Kathryn, Ryan, Monique, Webster, Richard, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Kolski, Hanna, Vishwanathan, V., Chidambaranathan, S., Nevo, Yoram, Gorni, Ksenija, Carlo, Jose, Tulinius, Mar, Lotze, Timothy, Bertorini, Tulio E., Day, John W., Karachunski, Peter, Clemens, Paula R., Abdel-Hamid, Hoda, Teasley, Jean, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Connolly, Anne M., Pestronk, Alan, Abresch, R. T., Henricson, Erik K., Joyce, Nanette C., Cnaan, Avital, Gordish-Dressmsn, Heather, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula and Duong, Tina (2020). TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. Eur. J. Hum. Genet., 28 (6). S. 815 - 826. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

This list was generated on Thu Mar 28 11:29:08 2024 CET.