eNauka - pregled

Pregled prema Projekat B.C. Children's Hospital Foundation

Prikaz rezultata 1 do 5 od 5
GodinaNaslovAutor(i)Tip rezultataMp-kat.
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 DMNaučni članak
23M23 - Rad u međ. časopisu
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;
Naučni članak
22M22 - Rad u istaknutom međ. časopisu
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 DMNaučni članak
21M21 - Rad u vrhunskom međ. časopisu
2019PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsJohnstone, Devon L; ...; Tarailo-Graovac, Maja; ...; (broj, koautora 53)Naučni članak
21aM21a - Rad u međ. časopisu izuzetnih vrednosti
2018The genotypic and phenotypic spectrum of MTO1 deficiencyO'Byrne, James J; Tarailo-Graovac, Maja; ...; (broj, koautora 33)Naučni članak
21M21 - Rad u vrhunskom međ. časopisu