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Number of items: 6.

Journal Article

Garbes, Lutz, Kim, Kyungho, Riess, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver ORCID: 0000-0003-0029-7556, Bohlander, Stefan K., Kim, Jinoh ORCID: 0000-0003-2841-147X and Netzer, Christian (2015). Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta. Am. J. Hum. Genet., 96 (3). S. 432 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Garbes, Lutz, Kim, Kyungho, Riess, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver ORCID: 0000-0003-0029-7556, Bohlander, Stefan K., Kim, Jinoh ORCID: 0000-0003-2841-147X and Netzer, Christian (2015). Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta. Am. J. Hum. Genet., 96 (3). S. 432 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Jost, Wolfgang H., Baeumer, Tobias, Bevot, Andrea, Birkmann, Ulrich, Buhmann, Carsten, Grosheva, Maria, Guntinas-Lichius, Orlando, Mlynczak, Ute, Paus, Sebastian, Pflug, Christina, Schroeder, Sebastian, Steffen, Armin, Wilken, Bernd and Berweck, Steffen (2022). Treatment of Sialorrhea with Botulinum Neurotoxin Type A - Consensus Practice Recommendations for Children and Adults. Forschritte Neurol. Psychiatr., 90 (5). S. 212 - 222. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3522

Koy, Anne, Kuehn, Andrea A., Huebl, Julius, Schneider, Gerd-Helge, van Riesen, Anne K., Eckenweiler, Matthias, Rensing-Zimmermann, Cornelia, Coenen, Volker Arnd, Krauss, Joachim K., Saryyeva, Assel, Hartmann, Hans, Haeussler, Martin, Volkmann, Jens, Matthies, Cordula, Horn, Annette, Schnitzler, Alfons ORCID: 0000-0002-6414-7939, Vesper, Jan, Gharabaghi, Alireza, Weiss, Daniel, Bevot, Andrea, Marks, Warren, Pomykal, Angela, Monbaliu, Elegast, Borck, Guntram, Mueller, Joerg, Prinz-Langenohl, Reinhild, Dembek, Till, Visser-Vandewalle, Veerle, Wirths, Jochen, Schiller, Petra, Hellmich, Martin and Timmermann, Lars . Quality of Life after Deep Brain Stimulation of Pediatric Patients With Dyskinetic Cerebral Palsy: A Prospective, Single-Arm, Multicenter Study With a Subsequent Randomized Double-Blind Crossover (STIM-CP). Mov. Disord.. HOBOKEN: WILEY. ISSN 1531-8257

Marbach, Felix, Rustad, Cecilie F., Riess, Angelika, Dukic, Dejan, Hsieh, Tzung-Chien ORCID: 0000-0003-3828-4419, Jobani, Itamar, Prescott, Trine, Bevot, Andrea, Erger, Florian ORCID: 0000-0002-2768-1702, Houge, Gunnar, Redfors, Maria, Altmueller, Janine, Stokowy, Tomasz ORCID: 0000-0003-0017-8338, Gilissen, Christian ORCID: 0000-0003-1693-9699, Kubisch, Christian, Scarano, Emanuela, Mazzanti, Laura, Fiskerstrand, Torunn, Krawitz, Peter M., Lessel, Davor ORCID: 0000-0003-4496-244X and Netzer, Christian (2019). The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. Am. J. Hum. Genet., 104 (4). S. 749 - 758. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Schroeder, Simone, Li, Yun, Yigit, Gokhan, Altmueller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Korenke, G. Christoph, Kottke, Raimund, Mayr, Johannes A., Preisel, Martin, Toelle, Sandra P., Wente-Schulz, Sarah, Wortmann, Saskia B., Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd and Brockmann, Knut . Heterozygous truncating variants inSUFUcause congenital ocular motor apraxia. Genet. Med.. LONDON: SPRINGERNATURE. ISSN 1530-0366

This list was generated on Thu Mar 28 19:47:01 2024 CET.