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Number of items: 6.

Journal Article

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

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

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

This list was generated on Mon Mar 1 02:01:08 2021 CET.