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Browsing by Project Michael Smith Foundat
Showing results 1 to 6 of 6
| Issue Date | Title | Author(s) | Type | М-cat. |
|---|---|---|---|---|
| 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 | Article | 21M21 |
| 2015 | Lack of IL7R alpha expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD) | Sanyal, Mrinmoy; ...; Bogdanovic, Radovan M; Mitrovic, Katarina; ...; (broj, koautora 32) | Article | 21M21 |
| 2019 | PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights | Johnstone, Devon L; ...; Tarailo-Graovac, Maja; ...; (broj, koautora 53) | Article | 21aM21a |
| 2010 | Schimke immunoosseous dysplasia: defining skeletal features | Hunter, Kshamta B; ...; Bogdanovic, Radovan M; ...; (broj, koautora 30) | Article | 22M22 |
| 2018 | The genotypic and phenotypic spectrum of MTO1 deficiency | O'Byrne, James J; Tarailo-Graovac, Maja; ...; (broj, koautora 33) | Article | 21M21 |
| 2015 | Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia | Morimoto, Marie; Wang, Karen J; Yu, Zhongxin; Gormley, Andrew K; Parham, David; Bogdanovic, Radovan M; Lueke, Thomas; Mayfield, Christy; Weksberg, Rosanna; Hendson, Glenda;
Boerkoel, Cornelius F;
| Article | 21M21 |