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Browsing by Author Tarailo-Graovac, Maja

Showing results 1 to 9 of 9
Issue DateTitleAuthor(s)TypeМp-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
22M22
2017Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disordersTarailo-Graovac, Maja; Zhu, Jing Yun Alice; Matthews, Allison; van, Karnebeek Clara DM; Wasserman, Wyeth WArticle
21a+M21a+
2021Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.Avramović, Vladimir; Frederiksen, Simona Denise; Brkić, Marjana; Tarailo-Graovac, MajaArticle
21aM21a
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
2018GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain StimulationHoney, C Michael; Malhotra, Armaan K; Tarailo-Graovac, Maja; van, Karnebeek Clara DM; Horvath, Gabriella A; Sulistyanto, AdiArticle
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
21a+M21a+
2018Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle functionWen, Xiao-Yan; Tarailo-Graovac, Maja; ...; (broj, koautora 31)Article
21aM21a
2018The genotypic and phenotypic spectrum of MTO1 deficiencyO'Byrne, James J; Tarailo-Graovac, Maja; ...; (broj, koautora 33)Article
21M21