Browsing by Author Skovby, Flemming

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Issue DateTitleAuthor(s)Citation
2012Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityCollins, Felicity; Alanay, Yasemin; Bijlsma, Emilia; Cho, Tae-Joon; Cole, Trevor; Daniel, Philip; David, Albert; Devriendt, Koen; et al, various; Faivre, Laurence; Ikegawa, Shiro; Jacquemont, Sebastien; Jesic, Milos; Krakow, Debbie; Liebrecht, Daniela; Maitz, Silvia; Marlin, Sandrine; Morgan, Timothy; Morin, Gilles; Nishikubo, Toshiya; Nishimura, Gen; Prescott, Trine; Scarano, Gioacchino; Shafeghati, Yousef; Skovby, Flemming; Children's Hospital Westmead: Paediatrics & Child HealthDisease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity, Human Mutation, vol.33, 4, 2012,pp 665-673
2007Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionWilcken, Bridget; Andria, Generoso; Blom, Henk; Boers, Godfried H. J.; Cooper, David N.; Gaustadnes, Mette; Kluijtmans, Leo; Koch, Hans; Kozich, Viktor; Kraus, Jan; Krawczak, Michael; Laszlo, Aranka; Linnebank, Michael; Naughten, Eileen; Ohura, Toshihiro; Pepe, Guglielmina; Pronicka, Ewa; Rickards, Olga; Sebastio, Gianfranco; Skovby, Flemming; Sokolova, Jitka; Vyletal, Peter; Wilcken, David E. L.; Yap, Sufin; Children's Hospital Westmead: Paediatrics & Child HealthDiversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion, Human Mutation, vol.28,(3),2007,pp 255-264