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Human mutation

Showing results (441-450 of 6,541) with videos related to

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Human Mutation|May 9, 2018
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndromeEmilia Stellacci, Katharina Steindl, Pascal Joset, et al.
Human Mutation|April 25, 2018
Insight into vitamin B<sub>6</sub> -dependent epilepsy due to PLPBP (previously PROSC) missense mutationsLorena Tremiño, Alicia Forcada-Nadal, Vicente Rubio
Human Mutation|March 10, 2010
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosisSatoru Shinkuma, Masashi Akiyama, Asuka Inoue, et al.
Human Mutation|September 27, 2016
Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner DiseaseCyril Burin-des-Roziers, Pierre-Raphael Rothschild, Valérie Layet, et al.
Human Mutation|April 26, 2017
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGIMarco Carraro, Giovanni Minervini, Manuel Giollo, et al.
Human Mutation|April 29, 2018
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databasesGillian S Townend, Friederike Ehrhart, Henk J van Kranen, et al.
Human Mutation|April 17, 2018
MERTK mutation update in inherited retinal diseasesIsabelle Audo, Saddek Mohand-Said, Elise Boulanger-Scemama, et al.
Human Mutation|April 27, 2017
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseasesGerard C P Schaafsma, Mauno Vihinen
Human Mutation|June 23, 2019
Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activityAashish N Adhikari
Human Mutation|June 23, 2019
Predicting functional variants in enhancer and promoter elements using RegulomeDBShengcheng Dong, Alan P Boyle
Pageof 655

Showing results (441-450 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|May 9, 2018
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndromeEmilia Stellacci, Katharina Steindl, Pascal Joset, et al.
Human Mutation|April 25, 2018
Insight into vitamin B<sub>6</sub> -dependent epilepsy due to PLPBP (previously PROSC) missense mutationsLorena Tremiño, Alicia Forcada-Nadal, Vicente Rubio
Human Mutation|March 10, 2010
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosisSatoru Shinkuma, Masashi Akiyama, Asuka Inoue, et al.
Human Mutation|September 27, 2016
Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner DiseaseCyril Burin-des-Roziers, Pierre-Raphael Rothschild, Valérie Layet, et al.
Human Mutation|April 26, 2017
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGIMarco Carraro, Giovanni Minervini, Manuel Giollo, et al.
Human Mutation|April 29, 2018
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databasesGillian S Townend, Friederike Ehrhart, Henk J van Kranen, et al.
Human Mutation|April 17, 2018
MERTK mutation update in inherited retinal diseasesIsabelle Audo, Saddek Mohand-Said, Elise Boulanger-Scemama, et al.
Human Mutation|April 27, 2017
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseasesGerard C P Schaafsma, Mauno Vihinen
Human Mutation|June 23, 2019
Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activityAashish N Adhikari
Human Mutation|June 23, 2019
Predicting functional variants in enhancer and promoter elements using RegulomeDBShengcheng Dong, Alan P Boyle
Pageof 655