eNauka - pregled
Pregled prema Autor Shyr C
Prikaz rezultata 1 do 5 od 5
| Godina | Naslov | Autor(i) | Tip rezultata | Mp-kat. |
|---|---|---|---|---|
| 2015 | Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms and vertical gaze palsy | Sirrs S; van Karnebeek C D; Peng X; Shyr C; Tarailo Graovac, Maja  ; Mandal R; Testa D; Dubin D; Carbonetti G; Glynn S E;
Sayson B; Robinson W P; Han B; Wishart D; Ross C J; Wasserman W W; Hurwitz T A; Sinclair G; Kaczocha M;
| Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2015 | FLAGS: candidate gene prioritization scheme based on frequently mutated genes in public exomes | Shyr C; Tarailo Graovac, Maja ; Gottlieb M; Lee J J Y; Van Karnebeek C; Wasserman W W | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2016 | Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy | Lee Jjy; Van Karnebeek Cdm; Drögemoller B; Shyr C; Tarailo Graovac, Maja ; Eydoux P; Ross Cj; Wasserman Ww; Björnson B; Wu Jk | Article | Mp. category will be shown later |
| 2014 | Next Generation Approach to the Discovery of Treatable Intellectual Disability Genes | Tarailo Graovac, Maja ; Sinclair G; Stockler-Ipsiroglu S; Van Allen M; Rozmus J; Shyr C; Sayson B; Lafek M; Ross C J; W P;
Wasserman W W; Rossi A;
| Conference Paper | Mp. category will be shown later |
| 2015 | OMICS2TREATID: A collaborative approach to accelerate the discovery of rare neuro-metabolic diseases | Tarailo Graovac, Maja ; Horvath G; Shyr C; Salvarinova R; Ye C; Wevers R A; Stockler S G; Wasserman W W; Van Karnebeek C | Conference Paper | Mp. category will be shown later |