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Rezultati 21-40 od 43
GodinaNaslovAutor(i)Tip rezultataMp-kat.
2015De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndromeLanglois, Sylvie; Tarailo Graovac, Maja ; Sayson, Bryan; Drögemöller, Britt; Swenerton, Anne; Ross, Colin JD; Wasserman, Wyeth W; van, Karnebeek Clara DMNaučni članak
21M21 - Vodeći međunarodni časopis kategorije M21
2015The genotypic and phenotypic spectrum of PIGA deficiencyTarailo 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;
Naučni članak
21aM21a - Vodeći međunarodni časopis kategorije M21a
2015Clinical delineation of the PACS1-related SyndromeSchuurs-Hoeijmakers J H M; Landsverk M L; Foulds N; Kukolich M K; Gavrilova R H; Greville-Heygate S; Hanson-Kwan A; Bernstein J A; Glass J; Chitaya D;
Burrow T A; Hopkin R; Husami A; Collins K; Wusik K; van der Aa N; Kooy F; Tatton Brown K; Gadzicki D; Kini U; Alvarez S; Fernández-Jaén A; McGehee F; van Karnebeek C D M; Van Allen M; Selby K; Tarailo Graovac, Maja ; Stavropoulos D J; Marshall C R; Merico D; Gregor A; Zweier C; Hopkin R; Wing-Yiu Chu Y Chung B; Devriendt K; Hurles M E; Brunner H G;
Konferencijski rad
Mp kategorija će biti prikazana naknadno.
2015Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagationTarailo Graovac, Maja ; Wong, Tammy; Qin, Zhaozhao; Flibotte, Stephane; Taylor, Jon; Moerman, Donald G; Rose, Ann M; Chen, NanshengNaučni članak
21aM21a - Vodeći međunarodni časopis kategorije M21a
2015Insulin-responsive hyperglycemia and ketoacidosis: Neonatal diabetes as a red herring for mitochondrial complex III deficiencyAnastasio N; Tarailo Graovac, Maja ; Drogemoller B; Al Khalifah R; Legault L; Van Karnebeek C; Buhas DKonferencijski rad
Mp kategorija će biti prikazana naknadno.
2015NANS deficiency: first discovery of a novel inborn error of metabolis by a combined high throughput metabolic screening & genomics approachVan Karnebeek C; Tarailo Graovac, Maja ; Van Allen M; Dewan T; Ross C J; Wasserman W W; Kluijtmans L; Wevers RKonferencijski rad
Mp kategorija će biti prikazana naknadno.
2014AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onsetArmstrong, L.; Biancheri, R.; Shyr, C.; Rossi, A.; Sinclair, G.; Ross, C. J.; Tarailo Graovac, Maja ; Wasserman, W. W.; van, Karnebeek C. D. M.Naučni članak
21M21 - Vodeći međunarodni časopis kategorije M21
2014FLAGS, frequently mutated genes in public exomesShyr, Casper; Tarailo Graovac, Maja ; Gottlieb, Michael; Lee, Jessica JY; van, Karnebeek Clara; Wasserman, Wyeth WNaučni članak
21M21 - Vodeći međunarodni časopis kategorije M21
2014Cyclin B3 and dynein heavy chain cooperate to increase fitness in the absence of mdf-1/MAD1 in Caenorhabditis elegansTarailo Graovac, Maja ; Wong, Tammy; Qin, Zhaozhao; Flibotte, Stephane; Taylor, Jon; Moerman, Donald G; Rose, Ann M; Chen, NanshengNaučni članak
21M21 - Vodeći međunarodni časopis kategorije M21
2014Genome-wide variations in a natural isolate of the nematode Caenorhabditis elegansVergara, Ismael A; Tarailo Graovac, Maja ; Frech, Christian; Wang, Jun; Qin, Zhaozhao; Zhang, Ting; She, Rong; Chu, Jeffrey SC; Wang, Ke; Chen, NanshengNaučni članak
21aM21a - Vodeći međunarodni časopis kategorije M21a
2014Workshop on the Interpretation of Genomic Variants from Exome SequencingTarailo Graovac, Maja ; Horvath G; Wasserman W WKonferencijski rad
Mp kategorija će biti prikazana naknadno.
2014Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalitiesSalvarinova, Ramona; Ye, Cynthia X.; Rossi, Andrea; Biancheri, Roberta; Roland, Elke H.; Pavlidis, Paul; Ross, Colin J.; Tarailo Graovac, Maja ; Wasserman, Wyeth W.; van, Karnebeek Clara D. M.Naučni članak
21M21 - Vodeći međunarodni časopis kategorije M21
2014Next Generation Approach to the Discovery of Treatable Intellectual Disability GenesTarailo Graovac, Maja ; Sinclair G; Stockler-Ipsiroglu S; Van Allen M; Rozmus J; Shyr C; Sayson B; Lafek M; Ross C J; W P;
Wasserman W W; Rossi A;
Konferencijski rad
Mp kategorija će biti prikazana naknadno.
2013A genome-wide view of variations in MAD1/mdf-1 and FANCJ/dog-1 defective C. elegans mutation accumulation line after 470 generationsTarailo Graovac, Maja ; Wang J; Chu J S C; Tu D; Baillie D L; Chen NKonferencijski rad
Mp kategorija će biti prikazana naknadno.
2012Using mutation accumulation lines and whole genome sequencing to identify dog-1/FANCJ induced lesions that bypass MDF-1/Mad1 spindle assembly checkpoint requirement for survivalTarailo Graovac, Maja ; Wang J; Chu J S C; Tu D; Baillie D L; Chen NKonferencijski rad
Mp kategorija će biti prikazana naknadno.
2012Mos1-Mediated Transgenesis to Probe Consequences of Single Gene Mutations in Variation-Rich Isolates of Caenorhabditis elegansTarailo Graovac, Maja ; Chen, NanshengNaučni članak
21aM21a - Vodeći međunarodni časopis kategorije M21a
2012Proper cyclin B3 dosage is important for precision of metaphase-to-anaphase onset timing in Caenorhabditis elegansTarailo Graovac, Maja ; Chen NNaučni članak
22M22 - Međunarodni časopis kategorije M22
2011Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegansChu, J. S. C.; Tarailo Graovac, Maja ; Zhang, D.; Wang, J.; Uyar, B.; Tu, D.; Trinh, J.; Baillie, D. L.; Chen, N.Naučni članak
21aM21a - Vodeći međunarodni časopis kategorije M21a
2011Comparative genomics reveals novel regulatory mechanism for the transcription factor RFX/DAF-19 in C. elegansChu J S C; Tarailo Graovac, Maja ; Wang J; Uyar B; Tu D; Trinh J; Johnsen B; Baillie D; Chen NKonferencijski rad
Mp kategorija će biti prikazana naknadno.
2011Loss-of-Function genomic variations in wild Caenorhabditis elegansVergara I A; Tarailo Graovac, Maja ; Wang J; Chen NKonferencijski rad
Mp kategorija će biti prikazana naknadno.