Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 2.

Vahidnezhad, Hassan; Youssefian, Leila; Saeidian, Amir Hossein; Touati, Andrew; Pajouhanfar, Sara; Baghdadi, Taghi; Shadmehri, Azam Ahmadi; Giunta Meyer, Cecilia; Kraenzlin, Marius; Syx, Delfien; Malfait, Fransiska; Has, Cristina; Lwin, Su M; Karamzadeh, Razieh; Liu, Lu; Guy, Alyson; Hamid, Mohammad; Kariminejad, Ariana; Zeinali, Sirous; McGrath, John A; Uitto, Jouni (2018). Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency. Matrix Biology:Epub ahead of print.

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.

This list was generated on Mon Apr 22 14:49:37 2019 CEST.