Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 4.

Anikster, Yair; Haack, Tobias B; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L; Paulo, Joao A; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; Ziv-Strasser, Limor; Malicdan, May Christine V; Gemperle-Britschgi, Corinne; Cremer, Kirsten; Engels, Hartmut; Meili, David; Keller, Irene; Bruggmann, Rémy; Strom, Tim M; Meitinger, Thomas; Mullikin, James C; Schwartz, Gerard; Ben-Zeev, Bruria; Gahl, William A; Harper, J Wade; Blau, Nenad; Hoffmann, Georg F; Prokisch, Holger; Opladen, Thomas; Schiff, Manuel (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American Journal of Human Genetics, 100(2):257-266.

Janecke, Andreas R; Li, Ben; Boehm, Manfred; Krabichler, Birgit; Rohrbach, Marianne; Müller, Thomas; Fuchs, Irene; Golas, Gretchen; Katagiri, Yasuhiro; Ziegler, Shira G; Gahl, William A; Wilnai, Yael; Zoppi, Nicoletta; Geller, Herbert M; Giunta, Cecilia; Slavotinek, Anne; Steinmann, Beat (2016). The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. American Journal of Medical Genetics. Part A, 170(1):103-115.

Klootwijk, Enriko D; Reichold, Markus; Helip-Wooley, Amanda; Tolaymat, Asad; Broeker, Carsten; Robinette, Steven L; Reinders, Joerg; Peindl, Dominika; Renner, Kathrin; Eberhart, Karin; Assmann, Nadine; Oefner, Peter J; Dettmer, Katja; Sterner, Christina; Schroeder, Josef; Zorger, Niels; Witzgall, Ralph; Reinhold, Stephan W; Stanescu, Horia C; Bockenhauer, Detlef; Jaureguiberry, Graciana; Courtneidge, Holly; Hall, Andrew M; Wijeyesekera, Anisha D; Holmes, Elaine; Nicholson, Jeremy K; O'Brien, Kevin; Bernardini, Isa; Krasnewich, Donna M; Arcos-Burgos, Mauricio; Izumi, Yuichiro; Nonoguchi, Hiroshi; Jia, Yuzhi; Reddy, Janardan K; Ilyas, Mohammad; Unwin, Robert J; Gahl, William A; Warth, Richard; Kleta, Robert (2014). Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome. New England Journal of Medicine, 370(2):129-138.

Manoli, Irini; Kwan, Justin Y; Wang, Qian; Rushing, Elisabeth J; Tsokos, Maria; Arai, Andrew E; Burch, Warner M; Dispenzieri, Angela; McPherron, Alexandra C; Gahl, William A (2013). Chronic myopathy due to immunoglobulin light chain amyloidosis. Molecular Genetics and Metabolism, 108(4):249-254.

This list was generated on Sat May 25 03:26:22 2019 CEST.