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Browsing by Author van, Karnebeek Clara DM
Showing results 1 to 6 of 6
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 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 | Article | 22M22 |
| 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 | Article | 21a+M21a+ |
| 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 | Article | 21M21 |
| 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;
| Article | 21aM21a |
| 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 | 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 |