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Browsing by Author Shyr, Casper
Showing results 1 to 5 of 5
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 2015 | Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms | Sirrs, Sandra; van, Karnebeek Clara DM; Peng, Xiaoxue; Shyr, Casper; Tarailo Graovac, Maja  ; Mandal, Rupasri; Testa, Daniel; Dubin, Devin; Carbonetti, Gregory; Glynn, Steven E;
Sayson, Bryan; Robinson, Wendy P; Han, Beomsoo; Wishart, David; Ross, Colin J; Wasserman, Wyeth W; Hurwitz, Trevor A; Sinclair, Graham; Kaczocha, Martin;
| Naučni članak | 21aM21a - Vodeći međunarodni časopis kategorije M21a |
| 2016 | Exome Sequencing and the Management of Neurometabolic Disorders | Tarailo Graovac, Maja ; Shyr, Casper; Ross, Colin J.; Horvath, Gabriella A.; Salvarinova, Ramona; Ye, Xin C.; Zhang, Lin-Hua; Bhavsar, Amit P.; Lee, Jessica J.Y.; Drögemöller, Britt I.;
Abdelsayed, Mena; Alfadhel, Majid; Armstrong, Linlea; Baumgartner, Matthias R.; Burda, Patricie; Connolly, Mary B.; Cameron, Jessie; Demos, Michelle; Dewan, Tammie; Dionne, Janis; Evans, A. Mark; Friedman, Jan M.; Garber, Ian; Lewis, Suzanne; Ling, Jiqiang; Mandal, Rupasri; Mattman, Andre; McKinnon, Margaret; Michoulas, Aspasia; Metzger, Daniel; Ogunbayo, Oluseye A.; Rakic, Bojana; Rozmus, Jacob; Ruben, Peter; Sayson, Bryan; Santra, Saikat; Schultz, Kirk R.; Selby, Kathryn; Shekel, Paul; Sirrs, Sandra; Skrypnyk, Cristina; Superti-Furga, Andrea; Turvey, Stuart E.; Van, Allen Margot I.; Wishart, David; Wu, Jiang; Wu, John; Zafeiriou, Dimitrios; Kluijtmans, Leo; Wevers, Ron A.; Eydoux, Patrice; Lehman, Anna M.; Vallance, Hilary; Stockler-Ipsiroglu, Sylvia; Sinclair, Graham; Wasserman, Wyeth W.; van, Karnebeek Clara D.;
| Article | 21a+M21a+ |
| 2014 | FLAGS, frequently mutated genes in public exomes | Shyr, Casper; Tarailo Graovac, Maja ; Gottlieb, Michael; Lee, Jessica JY; van, Karnebeek Clara; Wasserman, Wyeth W | Article | 21M21 |
| 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;
| Article | 22M22 |
| 2015 | The genotypic and phenotypic spectrum of PIGA deficiency | Tarailo Graovac, Maja ; Sinclair, Graham; Stockler-Ipsiroglu, Sylvia; Van, Allen Margot; Rozmus, Jacob; Shyr, Casper; Biancheri, Roberta; Oh, Tracey; Sayson, Bryan; Lafek, Mirafe;
Ross, Colin J; Robinson, Wendy P; Wasserman, Wyeth W; Rossi, Andrea; van, Karnebeek Clara DM;
| Article | 21aM21a |