Author,Title,Journal,ISSN,Publisher,Date,Volume,Number,Page,URL,URL(DOI)
Richard J L F Lemmers and Nienke van der Stoep and Patrick J van der Vliet and Steven A Moore and David San Leon Granado and Katherine Johnson and Ana Topf and Volker Straub and Teresinha Evangelista and Tahseen Mozaffar and Virginia Kimonis and Natalie D Shaw and Rita Selvatici and Alessandra Ferlini and Nicol Voermans and Baziel van Engelen and Sabrina Sacconi and Rabi Tawil and Meindert Lamers and Silvère M van der Maarel,SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain,Journal of Medical Genetics,0022-2593,BMJ,2019-06-26,56,10,693-700,https://cir.nii.ac.jp/crid/1360011146161734784,https://doi.org/10.1136/jmedgenet-2019-106168