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Milan Macek

Showing results (121-130 of 148) with videos related to

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American Journal of Human Genetics|December 20, 2003
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignJoshua D Groman, Timothy W Hefferon, Teresa Casals, et al.
International Journal of Legal Medicine|May 13, 2023
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary studyPavel Votýpka, Alice Krebsová, Patricia Norambuena-Poustková, et al.
The Journal of Allergy and Clinical Immunology|September 18, 2021
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCKVeronika Kanderova, Tamara Svobodova, Simon Borna, et al.
The Journal of Allergy and Clinical Immunology|April 16, 2013
A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitisJorge Esparza-Gordillo, Heidi Schaarschmidt, Liming Liang, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
European Journal of Human Genetics : EJHG|January 22, 2009
An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European populationTimothy Tehua Lu, Oscar Lao, Michael Nothnagel, et al.
Current Biology : CB|August 12, 2008
Correlation between genetic and geographic structure in EuropeOscar Lao, Timothy T Lu, Michael Nothnagel, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|February 28, 2009
European best practice guidelines for cystic fibrosis neonatal screeningCarlo Castellani, Kevin W Southern, Keith Brownlee, et al.
Nature Genetics|December 7, 2007
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitisJonas Rosendahl, Heiko Witt, Richárd Szmola, et al.
JAMA|September 10, 2009
Genetic modifiers of liver disease in cystic fibrosisJaclyn R Bartlett, Kenneth J Friedman, Simon C Ling, et al.
Pageof 15

Showing results (121-130 of 148) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|December 20, 2003
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignJoshua D Groman, Timothy W Hefferon, Teresa Casals, et al.
International Journal of Legal Medicine|May 13, 2023
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary studyPavel Votýpka, Alice Krebsová, Patricia Norambuena-Poustková, et al.
The Journal of Allergy and Clinical Immunology|September 18, 2021
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCKVeronika Kanderova, Tamara Svobodova, Simon Borna, et al.
The Journal of Allergy and Clinical Immunology|April 16, 2013
A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitisJorge Esparza-Gordillo, Heidi Schaarschmidt, Liming Liang, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
European Journal of Human Genetics : EJHG|January 22, 2009
An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European populationTimothy Tehua Lu, Oscar Lao, Michael Nothnagel, et al.
Current Biology : CB|August 12, 2008
Correlation between genetic and geographic structure in EuropeOscar Lao, Timothy T Lu, Michael Nothnagel, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|February 28, 2009
European best practice guidelines for cystic fibrosis neonatal screeningCarlo Castellani, Kevin W Southern, Keith Brownlee, et al.
Nature Genetics|December 7, 2007
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitisJonas Rosendahl, Heiko Witt, Richárd Szmola, et al.
JAMA|September 10, 2009
Genetic modifiers of liver disease in cystic fibrosisJaclyn R Bartlett, Kenneth J Friedman, Simon C Ling, et al.
Pageof 15