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Преглед према Аутор Tarailo-Graovac, Maja
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| Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
|---|---|---|---|---|
| 2013 | A genome-wide view of variations in MAD1/mdf-1 and FANCJ/dog-1 defective C. elegans mutation accumulation line after 470 generations | Tarailo Graovac, Maja  ; Wang J; Chu J S C; Tu D; Baillie D L; Chen N | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2014 | AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset | Armstrong, L.; Biancheri, R.; Shyr, C.; Rossi, A.; Sinclair, G.; Ross, C. J.; Tarailo Graovac, Maja ; Wasserman, W. W.; van, Karnebeek C. D. M. | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2015 | Altered PLP1 splicing causes hypomyelination of early myelinating structures | Kevelam, Sietske H.; Taube, Jennifer R.; van, Spaendonk Rosalina M. L.; Bertini, Enrico; Sperle, Karen; Tarnopolsky, Mark; Tonduti, Davide; Valente, Enza Maria; Travaglini, Lorena; Sistermans, Erik A.;
Bernard, Geneviève; Catsman-Berrevoets, Coriene E.; van, Karnebeek Clara D. M.; Østergaard, John R.; Friederich, Richard L.; Fawzi, Elsaid Mahmoud; Schieving, Jolanda H.; Tarailo Graovac, Maja
; Orcesi, Simona; Steenweg, Marjan E.; van, Berkel Carola G. M.; Waisfisz, Quinten; Abbink, Truus E. M.; van, der Knaap Marjo S.; Hobson, Grace M.; Wolf, Nicole I.; | Научни чланак | Мп категорија ће бити приказана накнадно. |
| 2016 | Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability | Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E.; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka;
Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N.; Muzny, Donna M.; Tarailo Graovac, Maja
; van Karnebeek, Clara D.M.; Lupski, James R.; Ren, Dejian; Yoon, Grace; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2015 | Clinical delineation of the PACS1-related Syndrome | Schuurs-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; | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2016 | Clinical delineation of the PACS1-related syndrome--Report on 19 patients | Schuurs-Hoeijmakers, Janneke H. M.; Landsverk, Megan L.; Foulds, Nicola; Kukolich, Mary K.; Gavrilova, Ralitza H.; Greville-Heygate, Stephanie; Hanson-Kahn, Andrea; Bernstein, Jonathan A.; Glass, Jennifer; Chitayat, David;
Burrow, Thomas A.; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van, der Aa Nathalie; Kooy, Frank; Brown, Kate Tatton; Gadzicki, Dorothea; Kini, Usha; Alvarez, Sara; Fernández-Jaén, Alberto; McGehee, Frank; Selby, Katherine; Tarailo Graovac, Maja
; Van, Allen Margot; van, Karnebeek Clara D. M.; Stavropoulos, Dimitri J.; Marshall, Christian R.; Merico, Daniele; Gregor, Anne; Zweier, Christiane; Hopkin, Robert J.; Chu, Yoyo Wing-Yiu; Chung, Brian Hon-Yin; de, Vries Bert B. A.; Devriendt, Koenraad; Hurles, Matthew E.; Brunner, Han G.; | Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
| 2011 | Comparative genomics reveals novel regulatory mechanism for the transcription factor RFX/DAF-19 in C. elegans | Chu J S C; Tarailo Graovac, Maja ; Wang J; Uyar B; Tu D; Trinh J; Johnsen B; Baillie D; Chen N | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2014 | Cyclin B3 and dynein heavy chain cooperate to increase fitness in the absence of mdf-1/MAD1 in Caenorhabditis elegans | Tarailo Graovac, Maja ; Wong, Tammy; Qin, Zhaozhao; Flibotte, Stephane; Taylor, Jon; Moerman, Donald G; Rose, Ann M; Chen, Nansheng | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 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 |
| 2015 | Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms and vertical gaze palsy | Sirrs S; van Karnebeek C D; Peng X; Shyr C; Tarailo Graovac, Maja ; Mandal R; Testa D; Dubin D; Carbonetti G; Glynn S E;
Sayson B; Robinson W P; Han B; Wishart D; Ross C J; Wasserman W W; Hurwitz T A; Sinclair G; Kaczocha M;
| Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2010 | Duplication of cyb-3 (cyclin B3) suppresses sterility in the absence of mdf-1/MAD1 spindle assembly checkpoint component in Caenorhabditis elegans | Tarailo Graovac, Maja ; Wang, Jun; Tu, Domena; Baillie, David L.; Rose, Ann M.; Chen, Nansheng | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2016 | Episodic ataxia associated with a de novo SCN2A mutation | Leach, Emma L.; van, Karnebeek Clara D.M.; Townsend, Katelin N.; Tarailo Graovac, Maja ; Hukin, Juliette; Gibson, William T. | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2016 | Exome Sequencing and the Management of Neurometabolic Disorders | Tarailo Graovac, Maja ; Shyr, Casper; Ross, Colin J.; Horvath, Gabriella A.; Salvarinova, Ramona; Ye, Xin C.; Zhang, Lin-Hua; Bhavsar, Amit P.; Lee, Jessica J.Y.; Drögemöller, Britt I.;
Abdelsayed, Mena; Alfadhel, Majid; Armstrong, Linlea; Baumgartner, Matthias R.; Burda, Patricie; Connolly, Mary B.; Cameron, Jessie; Demos, Michelle; Dewan, Tammie; Dionne, Janis; Evans, A. Mark; Friedman, Jan M.; Garber, Ian; Lewis, Suzanne; Ling, Jiqiang; Mandal, Rupasri; Mattman, Andre; McKinnon, Margaret; Michoulas, Aspasia; Metzger, Daniel; Ogunbayo, Oluseye A.; Rakic, Bojana; Rozmus, Jacob; Ruben, Peter; Sayson, Bryan; Santra, Saikat; Schultz, Kirk R.; Selby, Kathryn; Shekel, Paul; Sirrs, Sandra; Skrypnyk, Cristina; Superti-Furga, Andrea; Turvey, Stuart E.; Van, Allen Margot I.; Wishart, David; Wu, Jiang; Wu, John; Zafeiriou, Dimitrios; Kluijtmans, Leo; Wevers, Ron A.; Eydoux, Patrice; Lehman, Anna M.; Vallance, Hilary; Stockler-Ipsiroglu, Sylvia; Sinclair, Graham; Wasserman, Wyeth W.; van, Karnebeek Clara D.;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2014 | Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities | Salvarinova, 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. | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2011 | Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegans | Chu, J. S. C.; Tarailo Graovac, Maja ; Zhang, D.; Wang, J.; Uyar, B.; Tu, D.; Trinh, J.; Baillie, D. L.; Chen, N. | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 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 |
| 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 | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2016 | Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy | Lee Jjy; Van Karnebeek Cdm; Drögemoller B; Shyr C; Tarailo Graovac, Maja ; Eydoux P; Ross Cj; Wasserman Ww; Björnson B; Wu Jk | Научни чланак | Мп категорија ће бити приказана накнадно. |
| 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 | Конференцијски рад | Мп категорија ће бити приказана накнадно. |