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Преглед према Аутор Sayson, Bryan
Приказ резултата 1 до 5 од 5
| Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
|---|---|---|---|---|
| 2015 | De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome | Langlois, Sylvie; Tarailo Graovac, Maja  ; Sayson, Bryan; Drögemöller, Britt; Swenerton, Anne; Ross, Colin JD; Wasserman, Wyeth W; van, Karnebeek Clara DM | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 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;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 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.;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 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;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2016 | Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families | Sass, Jörn Oliver; Gemperle-Britschgi, Corinne; Tarailo Graovac, Maja ; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Barić, Ivo; Çoker, Mahmut; Damli-Huber, Aynur;
Faqeih, Eissa Ali; García, Segarra Nuria; Geraghty, Michael T.; Jåtun, Bjørn Magne; Kalkan, Uçar Sema; Kriewitz, Merten; Rauchenzauner, Markus; Bilić, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S.; van, Karnebeek Clara D.M.;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |