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Human mutation

Showing results (881-890 of 6,545) with videos related to

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Human Mutation|August 10, 2004
Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instabilityKrzysztof Sobczak, Wlodzimierz J Krzyzosiak
Human Mutation|August 10, 2004
Reconstruction of patrilineages and matrilineages of Samaritans and other Israeli populations from Y-chromosome and mitochondrial DNA sequence variationPeidong Shen, Tal Lavi, Toomas Kivisild, et al.
Human Mutation|August 10, 2004
RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1Andrew Sharp, Gabriella Pichert, Anneke Lucassen, et al.
Human Mutation|August 10, 2004
Splice-site genetic polymorphism of the human kallikrein 12 (KLK12) gene correlates with no substantial expression of KLK12 protein having serine protease activityKazuya Shinmura, Hong Tao, Hidetaka Yamada, et al.
Human Mutation|July 9, 2004
CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemiaSvetlana Pidasheva, Lilia D'Souza-Li, Lucie Canaff, et al.
Human Mutation|July 9, 2004
OrthoDisease: a database of human disease orthologsKevin P O'Brien, Isabelle Westerlund, Erik L L Sonnhammer
Human Mutation|July 9, 2004
The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR allelesBernhard Steiner, Kaspar Truninger, Javier Sanz, et al.
Human Mutation|July 9, 2004
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplicationFrancesca Ariani, Francesca Mari, Chiara Pescucci, et al.
Human Mutation|July 9, 2004
Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expressionBronwyn J Simpson, Tamara A Height, Grigori Y Rychkov, et al.
Human Mutation|July 9, 2004
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patientsByung-Ok Choi, Mi Sun Lee, Sang Hee Shin, et al.
Pageof 655

Showing results (881-890 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|August 10, 2004
Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instabilityKrzysztof Sobczak, Wlodzimierz J Krzyzosiak
Human Mutation|August 10, 2004
Reconstruction of patrilineages and matrilineages of Samaritans and other Israeli populations from Y-chromosome and mitochondrial DNA sequence variationPeidong Shen, Tal Lavi, Toomas Kivisild, et al.
Human Mutation|August 10, 2004
RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1Andrew Sharp, Gabriella Pichert, Anneke Lucassen, et al.
Human Mutation|August 10, 2004
Splice-site genetic polymorphism of the human kallikrein 12 (KLK12) gene correlates with no substantial expression of KLK12 protein having serine protease activityKazuya Shinmura, Hong Tao, Hidetaka Yamada, et al.
Human Mutation|July 9, 2004
CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemiaSvetlana Pidasheva, Lilia D'Souza-Li, Lucie Canaff, et al.
Human Mutation|July 9, 2004
OrthoDisease: a database of human disease orthologsKevin P O'Brien, Isabelle Westerlund, Erik L L Sonnhammer
Human Mutation|July 9, 2004
The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR allelesBernhard Steiner, Kaspar Truninger, Javier Sanz, et al.
Human Mutation|July 9, 2004
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplicationFrancesca Ariani, Francesca Mari, Chiara Pescucci, et al.
Human Mutation|July 9, 2004
Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expressionBronwyn J Simpson, Tamara A Height, Grigori Y Rychkov, et al.
Human Mutation|July 9, 2004
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patientsByung-Ok Choi, Mi Sun Lee, Sang Hee Shin, et al.
Pageof 655