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M Macek

Showing results (201-210 of 217) with videos related to

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Human Molecular Genetics|August 1, 1997
SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel geneO Riess, L Schöls, H Bottger, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|June 21, 2006
Highly preferential association of NonF508del CF mutations with the M470 alleleB M Ciminelli, A Bonizzato, C Bombieri, et al.
The Pharmacogenomics Journal|February 28, 2007
UGT1A7 polymorphisms in chronic pancreatitis: an example of genotyping pitfallsR H M te Morsche, J P H Drenth, K Truninger, et al.
Clinical Genetics|February 5, 2016
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoringJ Paděrová, A Holubová, M Simandlová, et al.
Casopis Lekaru Ceskych|January 6, 1978
[Current status, problems and perspective in prenatal genetic diagnosis]M Macek, E Seemanová, J Salichová, et al.
Vox Sanguinis|February 12, 2009
Recommendations of the ISBT Working Party on Granulocyte Immunobiology for leucocyte antibody screening in the investigation and prevention of antibody-mediated transfusion-related acute lung injury, P Bierling, J Bux, et al.
Casopis Lekaru Ceskych|July 27, 1979
[Cytogenetics of human neoplasms in Czechoslovakia up to 1977 (author's transl)]M Vrba, M Blasko, P Goetz, et al.
BMC Medical Genetics|March 23, 2019
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North CaucasusN V Petrova, N Y Kashirskaya, D K Saydaeva, et al.
Casopis Lekaru Ceskych|March 9, 2006
[Frequency view on genome changes testing]R Brdicka, M Beránek, M Cimburová, et al.
Nature Genetics|June 16, 1999
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13J Zielenski, M Corey, R Rozmahel, et al.
Pageof 22

Showing results (201-210 of 217) with videos related to

Sort By:
Pageof 22
Human Molecular Genetics|August 1, 1997
SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel geneO Riess, L Schöls, H Bottger, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|June 21, 2006
Highly preferential association of NonF508del CF mutations with the M470 alleleB M Ciminelli, A Bonizzato, C Bombieri, et al.
The Pharmacogenomics Journal|February 28, 2007
UGT1A7 polymorphisms in chronic pancreatitis: an example of genotyping pitfallsR H M te Morsche, J P H Drenth, K Truninger, et al.
Clinical Genetics|February 5, 2016
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoringJ Paděrová, A Holubová, M Simandlová, et al.
Casopis Lekaru Ceskych|January 6, 1978
[Current status, problems and perspective in prenatal genetic diagnosis]M Macek, E Seemanová, J Salichová, et al.
Vox Sanguinis|February 12, 2009
Recommendations of the ISBT Working Party on Granulocyte Immunobiology for leucocyte antibody screening in the investigation and prevention of antibody-mediated transfusion-related acute lung injury, P Bierling, J Bux, et al.
Casopis Lekaru Ceskych|July 27, 1979
[Cytogenetics of human neoplasms in Czechoslovakia up to 1977 (author's transl)]M Vrba, M Blasko, P Goetz, et al.
BMC Medical Genetics|March 23, 2019
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North CaucasusN V Petrova, N Y Kashirskaya, D K Saydaeva, et al.
Casopis Lekaru Ceskych|March 9, 2006
[Frequency view on genome changes testing]R Brdicka, M Beránek, M Cimburová, et al.
Nature Genetics|June 16, 1999
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13J Zielenski, M Corey, R Rozmahel, et al.
Pageof 22