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Human mutation

Showing results (1381-1390 of 5,734) with videos related to

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Human Mutation|July 14, 2026
Development of a New Portable Genetic Analyzer for Point-of-Care Molecular Genetics and Pharmacogenomics AnalysisIoanna Poulida, Kariofyllis Karamperis, Ioanna Konstantina Routsi, et al.
Human Mutation|October 29, 2009
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuriaThierry Vilboux, Michael Kayser, Wendy Introne, et al.
Human Mutation|July 9, 2009
p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylationPaul J M Savelkoul, Fabrizio De Mattia, Yuedan Li, et al.
Human Mutation|February 5, 1998
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to functionP J Waters, M A Parniak, P Nowacki, et al.
Human Mutation|January 1, 1992
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypesL Cremonesi, M Ferrari, E Belloni, et al.
Human Mutation|July 23, 2003
Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung diseaseGuido Fitze, Mandy Schierz, Eberhard Kuhlisch, et al.
Human Mutation|July 23, 2003
Founder mutation in the BRCA1 gene in Malay breast cancer patients from SingaporeAnn S G Lee, G H Ho, P C Oh, et al.
Human Mutation|July 23, 2003
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]Paola Origone, Carlo Bellini, Debora Sambarino, et al.
Human Mutation|July 23, 2003
Polymorphisms in fatty acid-binding protein-3 (FABP3) - putative association with type 2 diabetes mellitusHyoung Doo Shin, Lyoung Hyo Kim, Byung Lae Park, et al.
Human Mutation|January 1, 1992
Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutationsT R Prezant, N Fischel-Ghodsian
Pageof 574

Showing results (1381-1390 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|July 14, 2026
Development of a New Portable Genetic Analyzer for Point-of-Care Molecular Genetics and Pharmacogenomics AnalysisIoanna Poulida, Kariofyllis Karamperis, Ioanna Konstantina Routsi, et al.
Human Mutation|October 29, 2009
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuriaThierry Vilboux, Michael Kayser, Wendy Introne, et al.
Human Mutation|July 9, 2009
p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylationPaul J M Savelkoul, Fabrizio De Mattia, Yuedan Li, et al.
Human Mutation|February 5, 1998
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to functionP J Waters, M A Parniak, P Nowacki, et al.
Human Mutation|January 1, 1992
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypesL Cremonesi, M Ferrari, E Belloni, et al.
Human Mutation|July 23, 2003
Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung diseaseGuido Fitze, Mandy Schierz, Eberhard Kuhlisch, et al.
Human Mutation|July 23, 2003
Founder mutation in the BRCA1 gene in Malay breast cancer patients from SingaporeAnn S G Lee, G H Ho, P C Oh, et al.
Human Mutation|July 23, 2003
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]Paola Origone, Carlo Bellini, Debora Sambarino, et al.
Human Mutation|July 23, 2003
Polymorphisms in fatty acid-binding protein-3 (FABP3) - putative association with type 2 diabetes mellitusHyoung Doo Shin, Lyoung Hyo Kim, Byung Lae Park, et al.
Human Mutation|January 1, 1992
Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutationsT R Prezant, N Fischel-Ghodsian
Pageof 574