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Human mutation

Showing results (1701-1710 of 5,734) with videos related to

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Human Mutation|February 26, 2016
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified VariantsMaxime P Vallée, Tonya L Di Sera, David A Nix, et al.
Human Mutation|February 27, 2016
HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment SchemeZandra C Deans, Jennifer A Fairley, Johan T den Dunnen, et al.
Human Mutation|February 27, 2016
Genetics of Phenylketonuria: Then and NowNenad Blau
Human Mutation|March 19, 2016
Variation Interpretation Predictors: Principles, Types, Performance, and ChoiceAbhishek Niroula, Mauno Vihinen
Human Mutation|April 14, 2016
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder AllelesSven Günther, Ewelina Elert-Dobkowska, Anne S Soehn, et al.
Human Mutation|October 27, 2015
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel VariantsStefania Zampieri, Mirella Filocamo, Annalisa Pianta, et al.
Human Mutation|August 28, 2015
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype CorrelationBraden S Jensen, Tobias Willer, Dimah N Saade, et al.
Human Mutation|November 5, 2015
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ FunctionEmily S Noël, Tarek S Momenah, Khalid Al-Dagriri, et al.
Human Mutation|November 6, 2015
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse PopulationErin E Hughes, Colleen F Stevens, Carlos A Saavedra-Matiz, et al.
Human Mutation|October 29, 2015
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia PatientsRebeca Vindas-Smith, Michele Fiore, Melissa Vásquez, et al.
Pageof 574

Showing results (1701-1710 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|February 26, 2016
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified VariantsMaxime P Vallée, Tonya L Di Sera, David A Nix, et al.
Human Mutation|February 27, 2016
HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment SchemeZandra C Deans, Jennifer A Fairley, Johan T den Dunnen, et al.
Human Mutation|February 27, 2016
Genetics of Phenylketonuria: Then and NowNenad Blau
Human Mutation|March 19, 2016
Variation Interpretation Predictors: Principles, Types, Performance, and ChoiceAbhishek Niroula, Mauno Vihinen
Human Mutation|April 14, 2016
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder AllelesSven Günther, Ewelina Elert-Dobkowska, Anne S Soehn, et al.
Human Mutation|October 27, 2015
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel VariantsStefania Zampieri, Mirella Filocamo, Annalisa Pianta, et al.
Human Mutation|August 28, 2015
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype CorrelationBraden S Jensen, Tobias Willer, Dimah N Saade, et al.
Human Mutation|November 5, 2015
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ FunctionEmily S Noël, Tarek S Momenah, Khalid Al-Dagriri, et al.
Human Mutation|November 6, 2015
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse PopulationErin E Hughes, Colleen F Stevens, Carlos A Saavedra-Matiz, et al.
Human Mutation|October 29, 2015
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia PatientsRebeca Vindas-Smith, Michele Fiore, Melissa Vásquez, et al.
Pageof 574