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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.

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 Fri May 24 23:16:01 2019 CEST.