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Human mutation

Showing results (1671-1680 of 5,734) with videos related to

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Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
Human Mutation|January 10, 2022
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion)Saeed R Ghaffari, Maryam Rafati, Mahdi Shadnoush, et al.
Human Mutation|May 5, 2011
Characterization of copy number-stable regions in the human genomeAnna C V Johansson, Lars Feuk
Human Mutation|May 5, 2011
ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studiesTamuno Alfred, Yoav Ben-Shlomo, Rachel Cooper, et al.
Human Mutation|May 5, 2011
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophyMyriam Vezain, Bénédicte Gérard, Séverine Drunat, et al.
Human Mutation|May 4, 2011
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stabilityMichael S Nahorski, Anne Reiman, Derek H K Lim, et al.
Human Mutation|April 28, 2011
Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variantsEliseos J Mucaki, Peter Ainsworth, Peter K Rogan
Human Mutation|April 27, 2011
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutationFabian Schmid, Esther Glaus, Daniel Barthelmes, et al.
Human Mutation|April 27, 2011
ThalInd, a β-thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resourceSujata Sinha, Michael L Black, Sarita Agarwal, et al.
Pageof 574

Showing results (1671-1680 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
Human Mutation|January 10, 2022
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion)Saeed R Ghaffari, Maryam Rafati, Mahdi Shadnoush, et al.
Human Mutation|May 5, 2011
Characterization of copy number-stable regions in the human genomeAnna C V Johansson, Lars Feuk
Human Mutation|May 5, 2011
ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studiesTamuno Alfred, Yoav Ben-Shlomo, Rachel Cooper, et al.
Human Mutation|May 5, 2011
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophyMyriam Vezain, Bénédicte Gérard, Séverine Drunat, et al.
Human Mutation|May 4, 2011
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stabilityMichael S Nahorski, Anne Reiman, Derek H K Lim, et al.
Human Mutation|April 28, 2011
Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variantsEliseos J Mucaki, Peter Ainsworth, Peter K Rogan
Human Mutation|April 27, 2011
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutationFabian Schmid, Esther Glaus, Daniel Barthelmes, et al.
Human Mutation|April 27, 2011
ThalInd, a β-thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resourceSujata Sinha, Michael L Black, Sarita Agarwal, et al.
Pageof 574