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GodinaNaslovAutor(i)Tip rezultataMp-kat.
2016NANS-mediated synthesis of sialic acid is required for brain and skeletal developmentvan, Karnebeek Clara D M; Bonafé, Luisa; Wen, Xiao-Yan; Tarailo Graovac, Maja ; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia;
Breen, Catherine; Donnai, Dian; Cormier-Daire, Valérie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J; Van, Allen Margot I; Rossi, Andrea; Engelke, Udo F; Kluijtmans, Leo A J; van, der Heeft Ed; Renkema, Herma; de, Brouwer Arjan; Huijben, Karin; Zijlstra, Fokje; Heise, Torben; Boltje, Thomas; Wasserman, Wyeth W; Rivolta, Carlo; Unger, Sheila; Lefeber, Dirk J; Wevers, Ron A; Superti-Furga, Andrea;
Naučni članak
21aM21a - Rad u međ. časopisu izuzetnih vrednosti
2010Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar AtaxiaVermeer, Sascha; Hoischen, Alexander; Meijer, Rowdy P.P.; Gilissen, Christian; Neveling, Kornelia; Wieskamp, Nienke; de, Brouwer Arjan; Koenig, Michel; Anheim, Mathieu; Assoum, Mirna;
Drouot, Nathalie; Todorovic, Slobodanka; Milić Rašić, Vedrana ; Lochmüller, Hanns; Stevanin, Giovanni; Goizet, Cyril; David, Albert; Durr, Alexandra; Brice, Alexis; Kremer, Berry; van, de Warrenburg Bart P.C.; Schijvenaars, Mascha M.V.A.P.; Heister, Angelien; Kwint, Michael; Arts, Peer; van, der Wijst Jenny; Veltman, Joris; Kamsteeg, Erik-Jan; Scheffer, Hans; Knoers, Nine;
Naučni članak
21aM21a - Rad u međ. časopisu izuzetnih vrednosti