Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 3.

Malfait, Fransiska; Francomano, Clair; Byers, Peter; Belmont, John; Berglund, Britta; Black, James; Bloom, Lara; Bowen, Jessica M; Brady, Angela F; Burrows, Nigel P; Castori, Marco; Cohen, Helen; Colombi, Marina; Demirdas, Serwet; De Backer, Julie; De Paepe, Anne; Fournel-Gigleux, Sylvie; Frank, Michael; Ghali, Neeti; Giunta, Cecilia; Grahame, Rodney; Hakim, Alan; Jeunemaitre, Xavier; Johnson, Diana; Juul-Kristensen, Birgit; Kapferer-Seebacher, Ines; Kazkaz, Hanadi; Kosho, Tomoki; Lavallee, Mark E; Levy, Howard; Mendoza-Londono, Roberto; Pepin, Melanie; Pope, F. Michael; Reinstein, Eyal; Robert, Leema; Rohrbach, Marianne; Sanders, Lynn; Sobey, Glenda J; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Wheeldon, Nigel; Zschocke, Johannes; Tinkle, Brad (2017). The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 175(1):8-26.

Porter, Louise F; Gallego-Pinazo, Roberto; Keeling, Catherine L; Kamieniorz, Martyna; Zoppi, Nicoletta; Colombi, Marina; Giunta, Cecilia; Bonshek, Richard; Manson, Forbes D; Black, Graeme C (2015). Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. Orphanet Journal of Rare Diseases, 10(145):online.

Baumann, Matthias; Giunta, Cecilia; Krabichler, Birgit; Rüschendorf, Franz; Zoppi, Nicoletta; Colombi, Marina; Bittner, Reginald E; Quijano-Roy, Susana; Muntoni, Francesco; Cirak, Sebahattin; Schreiber, Gudrun; Zou, Yaqun; Hu, Ying; Romero, Norma Beatriz; Carlier, Robert Yves; Amberger, Albert; Deutschmann, Andrea; Straub, Volker; Rohrbach, Marianne; Steinmann, Beat; Rostásy, Kevin; Karall, Daniela; Bönnemann, Carsten G; Zschocke, Johannes; Fauth, Christine (2012). Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. American Journal of Human Genetics, 90(2):201-216.

This list was generated on Mon May 20 20:53:30 2019 CEST.