еНаука - преглед
Преглед према Аутор Wasserman, Wyeth W
Приказ резултата 1 до 9 од 9
| Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
|---|---|---|---|---|
| 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 | Научни чланак | 23M23 - Рад у међ. часопису |
| 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 | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 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 |
| 2014 | FLAGS, frequently mutated genes in public exomes | Shyr, Casper; Tarailo Graovac, Maja ; Gottlieb, Michael; Lee, Jessica JY; van, Karnebeek Clara; Wasserman, Wyeth W | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 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;
| Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
| 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 | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2016 | NANS-mediated synthesis of sialic acid is required for brain and skeletal development | van, Karnebeek Clara D M; Bonafé, Luisa; Wen, Xiao-Yan; Tarailo Graovac, Maja ; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia;
Breen, Catherine; Donnai, Dian; Cormier-Daire, Valérie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J; Van, Allen Margot I; Rossi, Andrea; Engelke, Udo F; Kluijtmans, Leo A J; van, der Heeft Ed; Renkema, Herma; de, Brouwer Arjan; Huijben, Karin; Zijlstra, Fokje; Heise, Torben; Boltje, Thomas; Wasserman, Wyeth W; Rivolta, Carlo; Unger, Sheila; Lefeber, Dirk J; Wevers, Ron A; Superti-Furga, Andrea;
| 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 |