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TITLE: Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa  Full Text
AUTHORS: Thatjana Gardeitchik; Miski Mohamed; Bjoern Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki Joong Kim; Bing C Lim; Johannes Haeberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leao; Riikka Keski Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; Uwe Kornak; Eva Morava; ...More
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef