eNauka - pregled
Pregled prema Autor Tarailo-Graovac, Maja
Prikaz rezultata 1 do 9 od 9
| Godina | Naslov | Autor(i) | Tip rezultata | Mp-kat. |
|---|---|---|---|---|
| 2017 | A case of splenomegaly in CBL syndrome | Coe, Rachel R; McKinnon, Margaret L; Tarailo-Graovac, Maja; Ross, Colin J; Wasserman, Wyeth W; Friedman, Jan M; Rogers, Paul C; van, Karnebeek Clara DM | Naučni članak | 22M22 - Međunarodni časopis kategorije M22 |
| 2017 | Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders | Tarailo-Graovac, Maja; Zhu, Jing Yun Alice; Matthews, Allison; van, Karnebeek Clara DM; Wasserman, Wyeth W | Naučni članak | 21a+M21a+ - Vodeći međunarodni časopis kategorije M21a+ |
| 2021 | Driving 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, Maja | Naučni članak | 21aM21a - Vodeći međunarodni časopis kategorije M21a |
| 2018 | Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype | Horvath, 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 - Međunarodni časopis kategorije M22 |
| 2018 | GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation | Honey, C Michael; Malhotra, Armaan K; Tarailo-Graovac, Maja; van, Karnebeek Clara DM; Horvath, Gabriella A; Sulistyanto, Adi | Naučni članak | 22M22 - Međunarodni časopis kategorije M22 |
| 2017 | Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives | Tarailo-Graovac, Maja; Wasserman, Wyeth W; Van, Karnebeek Clara DM | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |
| 2019 | PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights | Johnstone, Devon L; ...; Tarailo-Graovac, Maja; ...; (broj, koautora 53) | Naučni članak | 21a+M21a+ - Vodeći međunarodni časopis kategorije M21a+ |
| 2018 | Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function | Wen, Xiao-Yan; Tarailo-Graovac, Maja; ...; (broj, koautora 31) | Naučni članak | 21aM21a - Vodeći međunarodni časopis kategorije M21a |
| 2018 | The genotypic and phenotypic spectrum of MTO1 deficiency | O'Byrne, James J; Tarailo-Graovac, Maja; ...; (broj, koautora 33) | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |