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Janita Thusberg

Showing results (1-10 of 13) with videos related to

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Human Mutation|March 10, 2009
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methodsJanita Thusberg, Mauno Vihinen
Human Mutation|September 21, 2006
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutationsJanita Thusberg, Mauno Vihinen
Human Mutation|March 18, 2011
Performance of mutation pathogenicity prediction methods on missense variantsJanita Thusberg, Ayodeji Olatubosun, Mauno Vihinen
Proteins|February 9, 2008
Genome wide analysis of pathogenic SH2 domain mutationsIlkka Lappalainen, Janita Thusberg, Bairong Shen, et al.
Human Mutation|April 17, 2012
PON-P: integrated predictor for pathogenicity of missense variantsAyodeji Olatubosun, Jouni Väliaho, Jani Härkönen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 27, 2019
Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteriaKeith Nykamp, Michael Anderson, Martin Powers, et al.
BMC Genomics|July 25, 2014
In silico comparative characterization of pharmacogenomic missense variantsBiao Li, Chet Seligman, Janita Thusberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 12, 2017
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteriaKeith Nykamp, Michael Anderson, Martin Powers, et al.
Thescientificworldjournal|December 3, 2013
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studiesSerena Catarzi, Anna Caciotti, Janita Thusberg, et al.
Thrombosis Journal|January 1, 2009
Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac deathYue-Mei Fan, Pekka J Karhunen, Mari Levula, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Human Mutation|March 10, 2009
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methodsJanita Thusberg, Mauno Vihinen
Human Mutation|September 21, 2006
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutationsJanita Thusberg, Mauno Vihinen
Human Mutation|March 18, 2011
Performance of mutation pathogenicity prediction methods on missense variantsJanita Thusberg, Ayodeji Olatubosun, Mauno Vihinen
Proteins|February 9, 2008
Genome wide analysis of pathogenic SH2 domain mutationsIlkka Lappalainen, Janita Thusberg, Bairong Shen, et al.
Human Mutation|April 17, 2012
PON-P: integrated predictor for pathogenicity of missense variantsAyodeji Olatubosun, Jouni Väliaho, Jani Härkönen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 27, 2019
Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteriaKeith Nykamp, Michael Anderson, Martin Powers, et al.
BMC Genomics|July 25, 2014
In silico comparative characterization of pharmacogenomic missense variantsBiao Li, Chet Seligman, Janita Thusberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 12, 2017
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteriaKeith Nykamp, Michael Anderson, Martin Powers, et al.
Thescientificworldjournal|December 3, 2013
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studiesSerena Catarzi, Anna Caciotti, Janita Thusberg, et al.
Thrombosis Journal|January 1, 2009
Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac deathYue-Mei Fan, Pekka J Karhunen, Mari Levula, et al.
Pageof 2