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Number of items: 4.

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.

Klein, Andrea; Pitt, Matthew C; McHugh, John C; Niks, Erik H; Sewry, Caroline A; Phadke, Rahul; Feng, Lucy; Manzur, Adnan Y; Tirupathi, Sandya; Devile, Catherine; Jayawant, Sandeep; Finlayson, Sarah; Palace, Jacqueline; Muntoni, Francesco; Beeson, David; Robb, Stephanie A (2013). DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children. Neuromuscular Disorders : NMD, 23(11):883-891.

Burke, Georgina; Hiscock, Andrew; Klein, Andrea; Niks, Erik H; Main, Marion; Manzur, Adnan Y; Ng, Joanne; de Vile, Catherine; Muntoni, Francesco; Beeson, David; Robb, Stephanie (2013). Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular Disorders : NMD, 23(2):170-175.

Klein, Andrea; Lillis, Suzanne; Munteanu, Iulia; Scoto, Mariacristina; Zhou, Haiyan; Quinlivan, Ros; Straub, Volker; Manzur, Adnan Y; Roper, Helen; Jeannet, Pierre-Yves; Rakowicz, Wojtek; Jones, David Hilton; Jensen, Uffe Birk; Wraige, Elizabeth; Trump, Natalie; Schara, Ulrike; Lochmuller, Hanns; Sarkozy, Anna; Kingston, Helen; Norwood, Fiona; Damian, Maxwell; Kirschner, Janbernd; Longman, Cheryl; Roberts, Mark; Auer-Grumbach, Michaela; Hughes, Imelda; Bushby, Kate; Sewry, Caroline; Robb, Stephanie; Abbs, Stephen; Jungbluth, Heinz; Muntoni, Francesco (2012). Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Human Mutation, 33(6):981-988.

This list was generated on Wed Sep 19 15:42:59 2018 CEST.