Human molecular genetics - JoVE Visualize

Showing results (501-510 of 11,953) with videos related to

Pageof 1,196

Sort By:

Human Molecular Genetics|October 1, 1996

Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the geneA J Gladwin, J Dixon, S K Loftus, et al.

Human Molecular Genetics|October 1, 1996

Positional cloning of a gene involved in hereditary multiple exostosesW Wuyts, W Van Hul, J Wauters, et al.

Human Molecular Genetics|October 1, 1996

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domainT Iwashita, H Murakami, N Asai, et al.

Human Molecular Genetics|October 1, 1996

Characterization of the human jumonji geneJ L Bergé-Lefranc, P Jay, A Massacrier, et al.

Human Molecular Genetics|November 1, 1996

A 94 kb genomic sequence 3' to the murine Xist gene reveals an AT rich region containing a new testis specific gene TsxM C Simmler, D B Cunningham, P Clerc, et al.

Human Molecular Genetics|November 1, 1996

Oligonucleotide probes for alpha satellite DNA variants can distinguish homologous chromosomes by FISHC L O'Keefe, P E Warburton, A G Matera

Human Molecular Genetics|November 1, 1996

Testis-specific protein, Y-encoded (TSPY) expression in testicular tissuesF Schnieders, T Dörk, J Arnemann, et al.

Human Molecular Genetics|November 1, 1996

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapyK Fu, R Hartlen, T Johns, et al.

Human Molecular Genetics|November 1, 1996

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophyE M McNally, D Duggan, J R Gorospe, et al.

Human Molecular Genetics|April 1, 1993

The apolipoprotein(a) kringle IV repeats which differ from the major repeat kringle are present in variably-sized isoformsY Y van der Hoek, M E Wittekoek, U Beisiegel, et al.

Pageof 1,196

Showing results (501-510 of 11,953) with videos related to

Sort By:

Pageof 1,196

Human Molecular Genetics|October 1, 1996

Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the geneA J Gladwin, J Dixon, S K Loftus, et al.

Human Molecular Genetics|October 1, 1996

Positional cloning of a gene involved in hereditary multiple exostosesW Wuyts, W Van Hul, J Wauters, et al.

Human Molecular Genetics|October 1, 1996

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domainT Iwashita, H Murakami, N Asai, et al.

Human Molecular Genetics|October 1, 1996

Characterization of the human jumonji geneJ L Bergé-Lefranc, P Jay, A Massacrier, et al.

Human Molecular Genetics|November 1, 1996

A 94 kb genomic sequence 3' to the murine Xist gene reveals an AT rich region containing a new testis specific gene TsxM C Simmler, D B Cunningham, P Clerc, et al.

Human Molecular Genetics|November 1, 1996

Oligonucleotide probes for alpha satellite DNA variants can distinguish homologous chromosomes by FISHC L O'Keefe, P E Warburton, A G Matera

Human Molecular Genetics|November 1, 1996

Testis-specific protein, Y-encoded (TSPY) expression in testicular tissuesF Schnieders, T Dörk, J Arnemann, et al.

Human Molecular Genetics|November 1, 1996

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapyK Fu, R Hartlen, T Johns, et al.

Human Molecular Genetics|November 1, 1996

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophyE M McNally, D Duggan, J R Gorospe, et al.

Human Molecular Genetics|April 1, 1993

The apolipoprotein(a) kringle IV repeats which differ from the major repeat kringle are present in variably-sized isoformsY Y van der Hoek, M E Wittekoek, U Beisiegel, et al.

Pageof 1,196