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Browsing by Author Van Karnebeek C
Showing results 1 to 7 of 7
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 2015 | FLAGS: candidate gene prioritization scheme based on frequently mutated genes in public exomes | Shyr C; Tarailo Graovac, Maja  ; Gottlieb M; Lee J J Y; Van Karnebeek C; Wasserman W W | Conference Paper | Mp. category will be shown later |
| 2015 | GeneYenta: A phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation | Gottlieb M M; Arenillas D J; Maithripala S; Maurerd Z D; Tarailo Graovac, Maja ; Armstrong L; Patel M; Van Karnebeek C; Wasserman W W | Conference Paper | Mp. category will be shown later |
| 2015 | Insulin-responsive hyperglycemia and ketoacidosis: Neonatal diabetes as a red herring for mitochondrial complex III deficiency | Anastasio N; Tarailo Graovac, Maja ; Drogemoller B; Al Khalifah R; Legault L; Van Karnebeek C; Buhas D | Conference Paper | Mp. category will be shown later |
| 2015 | NANS deficiency: first discovery of a novel inborn error of metabolis by a combined high throughput metabolic screening & genomics approach | Van Karnebeek C; Tarailo Graovac, Maja ; Van Allen M; Dewan T; Ross C J; Wasserman W W; Kluijtmans L; Wevers R | Conference Paper | Mp. category will be shown later |
| 2015 | OMICS2TREATID: A collaborative approach to accelerate the discovery of rare neuro-metabolic diseases | Tarailo Graovac, Maja ; Horvath G; Shyr C; Salvarinova R; Ye C; Wevers R A; Stockler S G; Wasserman W W; Van Karnebeek C | Conference Paper | Mp. category will be shown later |
| 2015 | The N-acetylneuraminate pyruvate lyase (NPL) gene: a novel cause of free sialic aciduria - but is there a clinical phenotype? | Rakić B; Tarailo Graovac, Maja ; Hansen D; Sinclair G; Lehman A; Vallance H; Van Karnebeek C | Conference Paper | Mp. category will be shown later |
| 2015 | Uncovering novel genetic variants in a consanguineous family with pyridoxine-dependent epilepsy | Al Shekaili H; Van Karnebeek C; Al Thihli K; Ross C; Tarailo Graovac, Maja ; Coulter-Makie M; Han X; Higginson M; Zhang L; Friedman J M | Conference Paper | Mp. category will be shown later |