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pro vyhledávání: '"Holmefjord, Katja Brocke"'
Autor:
Ashikov, Angel, Bakar, Nurulamin Abu, Wen, Xiao Yan, Niemeijer, Marco, Osorio, Glentino Rodrigues Pinto, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothée, Ondruskova, Nina, Simon, Marleen E.H., Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T.A., Van Den Bogaart, Geert, Van Hijum, Sacha A.F.T., Rodenburg, Richard, Van Den Heuvel, Lambertus P., Van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, Van Scherpenzeel, Monique, Lefeber, Dirk J., Wamelink, Mirjam, Brunner, Han, Mundy, Helen, Michelakakis, Helen, Van Hasselt, Peter, Van De Kamp, Jiddeke, Martinelli, Diego, Morkrid, Lars, Holmefjord, Katja Brocke, Hertecant, Jozef, Alfadhel, Majid, Carpenter, Kevin, Naude, Johann Te Water, CDG group
Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with highthroughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in sing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10691::cf0902d77e2281a594e9c8f1f0ffe1e5
https://dspace.library.uu.nl/handle/1874/373281
https://dspace.library.uu.nl/handle/1874/373281
