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Human mutation

Showing results (621-630 of 6,543) with videos related to

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Human Mutation|January 4, 2001
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptomsW Matsuyama, M Nakagawa, H Takashima, et al.
Human Mutation|January 4, 2001
Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish familiesM J Trujillo, M Martinez-Gimeno, A Giménez, et al.
Human Mutation|January 4, 2001
A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese familyM C Wu, J Y Wu, C C Lee, et al.
Human Mutation|October 23, 2001
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsG Yogalingam, J J Hopwood
Human Mutation|October 23, 2001
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfataseT Litjens, J J Hopwood
Human Mutation|October 23, 2001
Improved detection of CFTR mutations in Southern California Hispanic CF patientsL J Wong, J Wang, Y H Zhang, et al.
Human Mutation|October 23, 2001
Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypesT Immervoll, S Loesgen, G Dütsch, et al.
Human Mutation|October 23, 2001
Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP)J P Geisler, M A Hatterman-Zogg, J A Rathe, et al.
Human Mutation|October 23, 2001
Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemiaY Wang, H Kanegane, O Sanal, et al.
Human Mutation|October 23, 2001
Genotype-phenotype comparison of the Swiss malignant hyperthermia populationT Girard, A Urwyler, K Censier, et al.
Pageof 655

Showing results (621-630 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|January 4, 2001
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptomsW Matsuyama, M Nakagawa, H Takashima, et al.
Human Mutation|January 4, 2001
Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish familiesM J Trujillo, M Martinez-Gimeno, A Giménez, et al.
Human Mutation|January 4, 2001
A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese familyM C Wu, J Y Wu, C C Lee, et al.
Human Mutation|October 23, 2001
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsG Yogalingam, J J Hopwood
Human Mutation|October 23, 2001
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfataseT Litjens, J J Hopwood
Human Mutation|October 23, 2001
Improved detection of CFTR mutations in Southern California Hispanic CF patientsL J Wong, J Wang, Y H Zhang, et al.
Human Mutation|October 23, 2001
Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypesT Immervoll, S Loesgen, G Dütsch, et al.
Human Mutation|October 23, 2001
Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP)J P Geisler, M A Hatterman-Zogg, J A Rathe, et al.
Human Mutation|October 23, 2001
Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemiaY Wang, H Kanegane, O Sanal, et al.
Human Mutation|October 23, 2001
Genotype-phenotype comparison of the Swiss malignant hyperthermia populationT Girard, A Urwyler, K Censier, et al.
Pageof 655