Browsing eNauka

Browsing by Project B.C. Children's Hospital Foundation

Showing results 1 to 5 of 5
Issue DateTitleAuthor(s)TypeМ-cat.
2017A case of splenomegaly in CBL syndromeCoe, Rachel R; McKinnon, Margaret L; Tarailo-Graovac, Maja; Ross, Colin J; Wasserman, Wyeth W; Friedman, Jan M; Rogers, Paul C; van, Karnebeek Clara DMArticle
23M23
2018Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder PhenotypeHorvath, Gabriella A; Zhao, Yulin; Tarailo-Graovac, Maja; Boelman, Cyrus; Gill, Harinder; Shyr, Casper; Lee, James; Blydt-Hansen, Ingrid; Drogemoller, Britt I; Moreland, Jacqueline;
Ross, Colin J; Wasserman, Wyeth W; Masotti, Andrea; Slesinger, Paul A; Van, Karnebeek Clara DM;
Article
22M22
2017Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectivesTarailo-Graovac, Maja; Wasserman, Wyeth W; Van, Karnebeek Clara DMArticle
21M21
2019PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsJohnstone, Devon L; ...; Tarailo-Graovac, Maja; ...; (broj, koautora 53)Article
21aM21a
2018The genotypic and phenotypic spectrum of MTO1 deficiencyO'Byrne, James J; Tarailo-Graovac, Maja; ...; (broj, koautora 33)Article
21M21