Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Human mutation

Showing results (751-760 of 6,545) with videos related to

Pageof 655
Sort By:
Human Mutation|July 5, 2017
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardationStephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, et al.
Human Mutation|December 6, 2005
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assaysSilvia Dominissini, Emanuele Buratti, Bruno Bembi, et al.
Human Mutation|March 17, 2010
KMeyeDB: a graphical database of mutations in genes that cause eye diseasesTakashi Kawamura, Masafumi Ohtsubo, Susumu Mitsuyama, et al.
Human Mutation|March 17, 2010
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)Luigia De Falco, Francesca Totaro, Antonella Nai, et al.
Human Mutation|March 17, 2010
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosisMariely DeJesus-Hernandez, Jannet Kocerha, NiCole Finch, et al.
Human Mutation|February 2, 2010
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genesTina Duelund Hjortshøj, Karen Grønskov, Alisdair R Philp, et al.
Human Mutation|February 4, 2010
The Roche Cancer Genome Database (RCGDB)Jan Küntzer, Daniela Eggle, Hans-Peter Lenhof, et al.
Human Mutation|February 4, 2010
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiencyMarie Zikanova, Vaclava Skopova, Ales Hnizda, et al.
Human Mutation|February 4, 2010
High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysisRolf H A M Vossen, Martine van Duijn, Mohamed R Daha, et al.
Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.
Pageof 655

Showing results (751-760 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|July 5, 2017
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardationStephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, et al.
Human Mutation|December 6, 2005
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assaysSilvia Dominissini, Emanuele Buratti, Bruno Bembi, et al.
Human Mutation|March 17, 2010
KMeyeDB: a graphical database of mutations in genes that cause eye diseasesTakashi Kawamura, Masafumi Ohtsubo, Susumu Mitsuyama, et al.
Human Mutation|March 17, 2010
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)Luigia De Falco, Francesca Totaro, Antonella Nai, et al.
Human Mutation|March 17, 2010
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosisMariely DeJesus-Hernandez, Jannet Kocerha, NiCole Finch, et al.
Human Mutation|February 2, 2010
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genesTina Duelund Hjortshøj, Karen Grønskov, Alisdair R Philp, et al.
Human Mutation|February 4, 2010
The Roche Cancer Genome Database (RCGDB)Jan Küntzer, Daniela Eggle, Hans-Peter Lenhof, et al.
Human Mutation|February 4, 2010
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiencyMarie Zikanova, Vaclava Skopova, Ales Hnizda, et al.
Human Mutation|February 4, 2010
High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysisRolf H A M Vossen, Martine van Duijn, Mohamed R Daha, et al.
Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.
Pageof 655