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Human mutation

Showing results (671-680 of 6,544) with videos related to

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Human Mutation|October 4, 2019
Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/betaTatyana Danyukova, Nataniel F Ludwig, Renata V Velho, et al.
Human Mutation|August 27, 2019
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndromeHadia Hijazi, Fernanda S Coelho, Claudia Gonzaga-Jauregui, et al.
Human Mutation|August 27, 2019
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variantsLois M Dodson, Alessandro Baldan, Mikael Nissbeck, et al.
Human Mutation|August 27, 2019
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlationGilles Morin, Valérie Biancalana, Andoni Echaniz-Laguna, et al.
Human Mutation|September 13, 2019
Mutation update for the NR5A1 gene involved in DSD and infertilityHelena Fabbri-Scallet, Lizandra Maia de Sousa, Andréa Trevas Maciel-Guerra, et al.
Human Mutation|April 5, 2011
Classifying variants of CDKN2A using computational and laboratory studiesPeter J Miller, Sekhar Duraisamy, Joan A Newell, et al.
Human Mutation|April 5, 2011
A TCTN2 mutation defines a novel Meckel Gruber syndrome locusRanad Shaheen, Eissa Faqeih, Mohammed Z Seidahmed, et al.
Human Mutation|April 8, 2011
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)Joanna Amberger, Carol Bocchini, Ada Hamosh
Human Mutation|April 27, 2011
Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC systemInge T Bernstein, Karen Lindorff-Larsen, Susanne Timshel, et al.
Human Mutation|May 4, 2011
Feedback of individual genetic results to research participants: in favor of a qualified disclosure policyAnnelien L Bredenoord, N Charlotte Onland-Moret, Johannes J M Van Delden
Pageof 655

Showing results (671-680 of 6,544) with videos related to

Sort By:
Pageof 655
Human Mutation|October 4, 2019
Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/betaTatyana Danyukova, Nataniel F Ludwig, Renata V Velho, et al.
Human Mutation|August 27, 2019
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndromeHadia Hijazi, Fernanda S Coelho, Claudia Gonzaga-Jauregui, et al.
Human Mutation|August 27, 2019
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variantsLois M Dodson, Alessandro Baldan, Mikael Nissbeck, et al.
Human Mutation|August 27, 2019
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlationGilles Morin, Valérie Biancalana, Andoni Echaniz-Laguna, et al.
Human Mutation|September 13, 2019
Mutation update for the NR5A1 gene involved in DSD and infertilityHelena Fabbri-Scallet, Lizandra Maia de Sousa, Andréa Trevas Maciel-Guerra, et al.
Human Mutation|April 5, 2011
Classifying variants of CDKN2A using computational and laboratory studiesPeter J Miller, Sekhar Duraisamy, Joan A Newell, et al.
Human Mutation|April 5, 2011
A TCTN2 mutation defines a novel Meckel Gruber syndrome locusRanad Shaheen, Eissa Faqeih, Mohammed Z Seidahmed, et al.
Human Mutation|April 8, 2011
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)Joanna Amberger, Carol Bocchini, Ada Hamosh
Human Mutation|April 27, 2011
Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC systemInge T Bernstein, Karen Lindorff-Larsen, Susanne Timshel, et al.
Human Mutation|May 4, 2011
Feedback of individual genetic results to research participants: in favor of a qualified disclosure policyAnnelien L Bredenoord, N Charlotte Onland-Moret, Johannes J M Van Delden
Pageof 655