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Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M; Brady, Angela F; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti; Johnson, Diana S; Kariminejad, Ariana; Koch, Johannes; Kraenzlin, Marius; Lahiri, Nayana; Lozic, Bernarda; Manzur, Adnan Y; Morton, Jenny E V; Pilch, Jacek; Pollitt, Rebecca C; Schreiber, Gudrun; Shannon, Nora L; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S; Witsch-Baumgartner, Martina; Zschocke, Johannes; Pope, F Michael; Bönnemann, Carsten G; Rohrbach, Marianne (2018). A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine, 20(1):42-54.

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.

Brady, Angela F; Demirdas, Serwet; Fournel-Gigleux, Sylvie; Ghali, Neeti; Giunta, Cecilia; Kapferer-Seebacher, Ines; Kosho, Tomoki; Mendoza-Londono, Roberto; Pope, Michael F; Rohrbach, Marianne; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Zschocke, Johannes; Malfait, Fransiska (2017). The Ehlers-Danlos syndromes, rare types. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 175(1):70-115.

This list was generated on Sun Jun 16 06:32:35 2019 CEST.