Human genetics - JoVE Visualize

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Human Genetics|March 1, 1995

Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: identification of new markers for molecular-cytogenetic applicationY B Yurov, A M Laurent, B Marcais, et al.

Human Genetics|March 1, 1995

Interphase cytogenetics on paraffin-embedded sections of ovary for detection of genomic constitution in a patient with Turner's syndrome and chromosomal mosaicismA Z Novak, G K Kokai, V P Popovic, et al.

Human Genetics|March 1, 1995

Transthyretin Ser 6 gene frequency in individuals without amyloidosisD R Jacobson, I L Alves, M J Saraiva, et al.

Human Genetics|March 1, 1995

Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV)R D Steiner, T Paunio, T Uemichi, et al.

Human Genetics|March 1, 1995

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differencesX Estivill, L Ortigosa, J Pérez-Frias, et al.

Human Genetics|March 1, 1995

An inactive cytochrome P450 CYP2D6 allele containing a deletion and a base substitutionA K Daly, J B Leathart, S J London, et al.

Human Genetics|March 1, 1995

Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3A Bosch, J Guimerà, S Wiemann, et al.

Human Genetics|February 1, 1994

A novel case of compound heterozygosity with "Normandy"/type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing type I vWDV Siguret, J M Lavergne, G Chérel, et al.

Human Genetics|December 28, 2023

Regulation potential of transcribed simple repeated sequences in developing neuronsTek Hong Chung, Anna Zhuravskaya, Eugene V Makeyev

Human Genetics|November 14, 2023

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variantsItay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, et al.

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Showing results (1911-1920 of 9,574) with videos related to

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Pageof 958

Human Genetics|March 1, 1995

Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: identification of new markers for molecular-cytogenetic applicationY B Yurov, A M Laurent, B Marcais, et al.

Human Genetics|March 1, 1995

Interphase cytogenetics on paraffin-embedded sections of ovary for detection of genomic constitution in a patient with Turner's syndrome and chromosomal mosaicismA Z Novak, G K Kokai, V P Popovic, et al.

Human Genetics|March 1, 1995

Transthyretin Ser 6 gene frequency in individuals without amyloidosisD R Jacobson, I L Alves, M J Saraiva, et al.

Human Genetics|March 1, 1995

Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV)R D Steiner, T Paunio, T Uemichi, et al.

Human Genetics|March 1, 1995

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differencesX Estivill, L Ortigosa, J Pérez-Frias, et al.

Human Genetics|March 1, 1995

An inactive cytochrome P450 CYP2D6 allele containing a deletion and a base substitutionA K Daly, J B Leathart, S J London, et al.

Human Genetics|March 1, 1995

Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3A Bosch, J Guimerà, S Wiemann, et al.

Human Genetics|February 1, 1994

A novel case of compound heterozygosity with "Normandy"/type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing type I vWDV Siguret, J M Lavergne, G Chérel, et al.

Human Genetics|December 28, 2023

Regulation potential of transcribed simple repeated sequences in developing neuronsTek Hong Chung, Anna Zhuravskaya, Eugene V Makeyev

Human Genetics|November 14, 2023

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variantsItay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, et al.

Pageof 958