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Human mutation

Showing results (1351-1360 of 5,734) with videos related to

Pageof 574
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Human Mutation|April 14, 2025
Balanced Translocation Disrupting <i>JAG1</i> Identified by Optical Genomic Mapping in Suspected Alagille SyndromeYi-Qiong Zhang, Peng-Fei Gao, Jing-Min Yang, et al.
Human Mutation|April 14, 2025
Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary HyperoxaluriaYucheng Ge, Yukun Liu, Ruichao Zhan, et al.
Human Mutation|April 14, 2025
A Novel Constitutively Active <i>c</i>.98<i>G</i> > <i>C</i>, p.(R33P) Variant in <i>RAB11A</i> Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial ArborizationYumi Tsuneura, Taeko Kawai, Keitaro Yamada, et al.
Human Mutation|April 14, 2025
A Novel <i>Alu</i> Element Insertion in <i>ATM</i> Induces Exon Skipping in Suspected HBOC PatientsJanin Klein, Aldrige B Allister, Gunnar Schmidt, et al.
Human Mutation|April 14, 2025
Targeted Genomic Sequencing of <i>TSC1</i> and <i>TSC2</i> Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was NormalHannah D West, Mark Nellist, Rutger W W Brouwer, et al.
Human Mutation|April 14, 2025
Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic ReviewAnastasia Ward, Ramil Mauleon, Chee Y Ooi, et al.
Human Mutation|April 14, 2025
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease CohortEce Sönmezler, Cristiana Stuani, Semra Hız Kurul, et al.
Human Mutation|April 14, 2025
Estimation of the Age of the Kashubian-Specific Pathogenic <i>NPHS2</i> Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local OriginM Jankowski, P Daca-Roszak, I Bałasz-Chmielewska, et al.
Human Mutation|April 14, 2025
Phenotype Correlations With Pathogenic DNA Variants in the <i>MUTYH</i> Gene: A Review of Over 2000 CasesMonica Thet, John-Paul Plazzer, Gabriel Capella, et al.
Human Mutation|April 14, 2025
The UCMD-Causing <i>COL6A1</i> (<i>c</i>.930 + 189<i>C</i> > <i>T</i>) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI <i>α</i>1 ChainsCarolin D Freiburg, Herimela Solomon-Degefa, Patrick Freiburg, et al.
Pageof 574

Showing results (1351-1360 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|April 14, 2025
Balanced Translocation Disrupting <i>JAG1</i> Identified by Optical Genomic Mapping in Suspected Alagille SyndromeYi-Qiong Zhang, Peng-Fei Gao, Jing-Min Yang, et al.
Human Mutation|April 14, 2025
Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary HyperoxaluriaYucheng Ge, Yukun Liu, Ruichao Zhan, et al.
Human Mutation|April 14, 2025
A Novel Constitutively Active <i>c</i>.98<i>G</i> > <i>C</i>, p.(R33P) Variant in <i>RAB11A</i> Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial ArborizationYumi Tsuneura, Taeko Kawai, Keitaro Yamada, et al.
Human Mutation|April 14, 2025
A Novel <i>Alu</i> Element Insertion in <i>ATM</i> Induces Exon Skipping in Suspected HBOC PatientsJanin Klein, Aldrige B Allister, Gunnar Schmidt, et al.
Human Mutation|April 14, 2025
Targeted Genomic Sequencing of <i>TSC1</i> and <i>TSC2</i> Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was NormalHannah D West, Mark Nellist, Rutger W W Brouwer, et al.
Human Mutation|April 14, 2025
Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic ReviewAnastasia Ward, Ramil Mauleon, Chee Y Ooi, et al.
Human Mutation|April 14, 2025
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease CohortEce Sönmezler, Cristiana Stuani, Semra Hız Kurul, et al.
Human Mutation|April 14, 2025
Estimation of the Age of the Kashubian-Specific Pathogenic <i>NPHS2</i> Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local OriginM Jankowski, P Daca-Roszak, I Bałasz-Chmielewska, et al.
Human Mutation|April 14, 2025
Phenotype Correlations With Pathogenic DNA Variants in the <i>MUTYH</i> Gene: A Review of Over 2000 CasesMonica Thet, John-Paul Plazzer, Gabriel Capella, et al.
Human Mutation|April 14, 2025
The UCMD-Causing <i>COL6A1</i> (<i>c</i>.930 + 189<i>C</i> > <i>T</i>) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI <i>α</i>1 ChainsCarolin D Freiburg, Herimela Solomon-Degefa, Patrick Freiburg, et al.
Pageof 574