Universität zu Köln

Boegershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Huelya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin OEzlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume ORCID: 0000-0002-9943-9368, Strom, Tim M., Fabre, Aurelie, Baynam, Gareth, Sanchez, Elodie, Nuernberg, Gudrun, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Capri, Yline, Isidor, Bertrand, Lacombe, Didier ORCID: 0000-0002-8956-2207, Corsini, Carole, Cormier-Daire, Valerie, Sanlaville, Damien ORCID: 0000-0001-9939-2849, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nuernberg, Peter, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Zoll, Barbara, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Tzschach, Andreas ORCID: 0000-0002-6840-965X, Verloes, Alain, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Touitou, Isabelle, Netzer, Christian, Li, Yun, Genevieve, David, Yigit, Goekhan and Wollnik, Bernd (2016). Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Hum. Mutat., 37 (9). S. 847 - 865. HOBOKEN: WILEY. ISSN 1098-1004

Costantini, Alice, Vuorimies, Ilkka, Makitie, Riikka, Mayranpaa, Mervi K., Becker, Jutta, Pekkinen, Minna, Valta, Helena, Netzer, Christian, Kampe, Anders, Taylan, Fulya ORCID: 0000-0002-2907-0235, Jiao, Hong and Makitie, Outi (2017). CRTAP variants in early-onset osteoporosis and recurrent fractures. Am. J. Med. Genet. A, 173 (3). S. 806 - 809. HOBOKEN: WILEY. ISSN 1552-4833

Fazeli, Walid, Herkenrath, Peter, Stiller, Barbara, Neugebauer, Antje, Fricke, Julia, Lang-Roth, Ruth, Nuernberg, Gudrun, Thoenes, Michaela, Becker, Jutta, Altmueller, Janine, Volk, Alexander E., Kubisch, Christian ORCID: 0000-0003-4220-0978 and Heller, Raoul (2017). A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. Hum. Mol. Genet., 26 (20). S. 4055 - 4067. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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

Hoyer-Kuhn, Heike, Semler, Oliver ORCID: 0000-0003-0029-7556, Garbes, Lutz, Zimmermann, Katharina, Becker, Jutta, Wollnik, Bernd, Schoenau, Eckhard and Netzer, Christian (2014). A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset. J. Bone Miner. Res., 29 (6). S. 1387 - 1392. HOBOKEN: WILEY. ISSN 1523-4681

Kalbe, Elke, Roheger, Mandy ORCID: 0000-0002-6015-3194, Paluszak, Kay, Meyer, Julia, Becker, Jutta, Fink, Gereon R., Kukolja, Juraj, Rahn, Andreas, Szabados, Florian, Wirth, Brunhilde and Kessler, Josef (2018). Effects of a Cognitive Training With and Without Additional Physical Activity in Healthy Older Adults: A Follow-Up 1 Year After a Randomized Controlled Trial. Front. Aging Neurosci., 10. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1663-4365

Rahe, Julia, Becker, Jutta, Fink, Gereon R. ORCID: 0000-0002-8230-1856, Kessler, Josef, Kukolja, Juraj ORCID: 0000-0003-1569-3287, Rahn, Andreas, Rosen, Jan B., Szabados, Florian, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Kalbe, Elke (2015). Cognitive training with and without additional physical activity in healthy older adults: cognitive effects, neurobiological mechanisms, and prediction of training success. Front. Aging Neurosci., 7. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1663-4365

Schulz, Yvonne, Freese, Luisa, Maenz, Johanna, Zoll, Barbara, Voelter, Christiane, Brockmann, Knut, Boegershausen, Nina, Becker, Jutta, Wollnik, Bernd and Pauli, Silke (2014). CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum. Mol. Genet., 23 (16). S. 4396 - 4406. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Ventzke, Ada, Feldkoetter, Markus, Wei, Andrew, Becker, Jutta, Beck, Bodo B. and Hoppe, Bernd (2017). Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III. Pediatr. Nephrol., 32 (12). S. 2263 - 2272. NEW YORK: SPRINGER. ISSN 1432-198X

Ventzke, Ada, Feldkotter, Markus, Wei, Andrew, Becker, Jutta, Beck, Bodo B. and Hoppe, Bernd (2018). Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III (vol 32, pg 2263, 2017). Pediatr. Nephrol., 33 (7). S. 1275 - 1277. NEW YORK: SPRINGER. ISSN 1432-198X