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TÍTULO: Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa  Full Text
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2014, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, NÚMERO: 7
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Mutations in the Human Laminin beta 2 (LAMB2) Gene and the Associated Phenotypic Spectrum  Full Text
AUTORES: Verena Matejas; Bernward Hinkes; Faisal Alkandari; Lihadh Al Gazali; Ellen Annexstad; Mehmet B Aytac; Margaret Barrow; Kveta Blahova; Detlef Bockenhauer; Hae Il Cheong; Iwona Maruniak Chudek; Pierre Cochat; Joerg Doetsch; Priya Gajjar; Raoul C Hennekam; Francoise Janssen; Mikhail Kagan; Ariana Kariminejad; Markus J Kemper; Jens Koenig; Jillene Kogan; Hester Y Kroes; Eberhard Kuwertz Broeking; Amy F Lewanda; Ana Medeira; Jutta Muscheites; Patrick Niaudet; Michel Pierson; Anand Saggar; Laurie Seaver; Mohnish Suri; Alexey Tsygin; Elke Wuehl; Aleksandra Zurowska; Steffen Uebe; Friedhelm Hildebrandt; Corinne Antignac; Martin Zenker; ...Mais
PUBLICAÇÃO: 2010, FONTE: HUMAN MUTATION, VOLUME: 31, NÚMERO: 9
INDEXADO EM: Scopus WOS CrossRef