Human mutation - JoVE Visualize

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Human Mutation|November 4, 2004

LDL-receptor mutations in EuropeGeorge V Z Dedoussis, Hartmut Schmidt, Janine Genschel

Human Mutation|November 4, 2004

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150CLeida B Rozeman, Luca Sangiorgi, Inge H Briaire-de Bruijn, et al.

Human Mutation|November 4, 2004

High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: implications for haplotype taggingRichard J N Allcock, Lydia Windsor, Ivo G Gut, et al.

Human Mutation|November 4, 2004

Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1Cynthia Laflamme, Christine Filion, Yves Labelle

Human Mutation|November 9, 2004

Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer familiesCarolin Hartmann, Anika L John, Rüdiger Klaes, et al.

Human Mutation|April 16, 2005

Comparison of PCR-based mutation detection methods and application for identification of mouse Sult1a1 mutant embryonic stem cell clones using pooled templatesBoris Greber, Helena Tandara, Hans Lehrach, et al.

Human Mutation|April 16, 2005

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiencyEsther M Maier, Bernhard Liebl, Wulf Röschinger, et al.

Human Mutation|April 16, 2005

TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclatureAlessandra Splendore, Roberto D Fanganiello, Cibele Masotti, et al.

Human Mutation|March 19, 2005

Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinomaTracy Lovatt, Julie Alldersea, John T Lear, et al.

Human Mutation|September 15, 2004

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiencyVito Iacobazzi, Federica Invernizzi, Silvia Baratta, et al.

Pageof 577

Showing results (231-240 of 5,766) with videos related to

Sort By:

Pageof 577

Human Mutation|November 4, 2004

LDL-receptor mutations in EuropeGeorge V Z Dedoussis, Hartmut Schmidt, Janine Genschel

Human Mutation|November 4, 2004

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150CLeida B Rozeman, Luca Sangiorgi, Inge H Briaire-de Bruijn, et al.

Human Mutation|November 4, 2004

High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: implications for haplotype taggingRichard J N Allcock, Lydia Windsor, Ivo G Gut, et al.

Human Mutation|November 4, 2004

Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1Cynthia Laflamme, Christine Filion, Yves Labelle

Human Mutation|November 9, 2004

Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer familiesCarolin Hartmann, Anika L John, Rüdiger Klaes, et al.

Human Mutation|April 16, 2005

Comparison of PCR-based mutation detection methods and application for identification of mouse Sult1a1 mutant embryonic stem cell clones using pooled templatesBoris Greber, Helena Tandara, Hans Lehrach, et al.

Human Mutation|April 16, 2005

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiencyEsther M Maier, Bernhard Liebl, Wulf Röschinger, et al.

Human Mutation|April 16, 2005

TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclatureAlessandra Splendore, Roberto D Fanganiello, Cibele Masotti, et al.

Human Mutation|March 19, 2005

Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinomaTracy Lovatt, Julie Alldersea, John T Lear, et al.

Human Mutation|September 15, 2004

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiencyVito Iacobazzi, Federica Invernizzi, Silvia Baratta, et al.

Pageof 577