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Human mutation

Showing results (141-150 of 6,540) with videos related to

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Human Mutation|July 19, 2002
Highly multiplexed genotyping of coronary artery disease-associated SNPs using MALDI-TOF mass spectrometryKenji Nakai, Wataru Habano, Takeshi Fujita, et al.
Human Mutation|July 19, 2002
I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?Anna Aldea, Jordi Casademont, Juan I Aróstegui, et al.
Human Mutation|July 12, 2002
Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblingsMary Anna Carbone, Derek A Applegarth, Brian H Robinson
Human Mutation|July 12, 2002
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndromeY Zhang, P S Hart, A J Moretti, et al.
Human Mutation|August 31, 2002
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathiesPeter N Robinson, Patrick Booms, Stefanie Katzke, et al.
Human Mutation|August 31, 2002
Data mining of public SNP databases for the selection of intragenic SNPsJan Aerts, Yves Wetzels, Nadine Cohen, et al.
Human Mutation|August 31, 2002
A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patientsNelson L S Tang, W L Hwu, Rachel T Chan, et al.
Human Mutation|August 31, 2002
Analysis of the PTCH coding region in human rhabdomyosarcomaJulia Calzada-Wack, Udo Schnitzbauer, Axel Walch, et al.
Human Mutation|August 31, 2002
Human piebaldism: six novel mutations of the proto-oncogene KITPetros Syrris, Kirsten Heathcote, Romeo Carrozzo, et al.
Human Mutation|August 31, 2002
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosisMichael Kiehntopf, Jörg Schickel, Bärbel von der Gönne, et al.
Pageof 654

Showing results (141-150 of 6,540) with videos related to

Sort By:
Pageof 654
Human Mutation|July 19, 2002
Highly multiplexed genotyping of coronary artery disease-associated SNPs using MALDI-TOF mass spectrometryKenji Nakai, Wataru Habano, Takeshi Fujita, et al.
Human Mutation|July 19, 2002
I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?Anna Aldea, Jordi Casademont, Juan I Aróstegui, et al.
Human Mutation|July 12, 2002
Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblingsMary Anna Carbone, Derek A Applegarth, Brian H Robinson
Human Mutation|July 12, 2002
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndromeY Zhang, P S Hart, A J Moretti, et al.
Human Mutation|August 31, 2002
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathiesPeter N Robinson, Patrick Booms, Stefanie Katzke, et al.
Human Mutation|August 31, 2002
Data mining of public SNP databases for the selection of intragenic SNPsJan Aerts, Yves Wetzels, Nadine Cohen, et al.
Human Mutation|August 31, 2002
A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patientsNelson L S Tang, W L Hwu, Rachel T Chan, et al.
Human Mutation|August 31, 2002
Analysis of the PTCH coding region in human rhabdomyosarcomaJulia Calzada-Wack, Udo Schnitzbauer, Axel Walch, et al.
Human Mutation|August 31, 2002
Human piebaldism: six novel mutations of the proto-oncogene KITPetros Syrris, Kirsten Heathcote, Romeo Carrozzo, et al.
Human Mutation|August 31, 2002
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosisMichael Kiehntopf, Jörg Schickel, Bärbel von der Gönne, et al.
Pageof 654