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Milan Macek

Showing results (11-20 of 148) with videos related to

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European Journal of Human Genetics : EJHG|December 4, 2008
Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratoriesJana Camajova, Sarah Berwouts, Gert Matthijs, et al.
Neuro Endocrinology Letters|October 3, 2014
Complex morphological and molecular genetic examination of amelogenesis imperfecta: a case presentation of two Czech siblings with a non-syndrome form of the diseaseTereza Kripnerova, Veronika Krulisova, Nikola Ptakova, et al.
Cancer Genetics|June 14, 2011
Increased sperm aneuploidy in two male carriers of germline TP53 mutationsPetra Paulasova, Jan Diblik, Marie Trkova, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 17, 2002
Association of human aging with a functional variant of klothoDan E Arking, Alice Krebsova, Milan Macek, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|October 25, 2008
Wilson disease as a cause of liver injury in cystic fibrosisRadana Kotalová, Milan Jirsa, Vera Vávrová, et al.
Prenatal Diagnosis|September 13, 2007
Chromosome topology in normal and aneuploid blastomeres from human embryosJan Diblík, Milan Macek, M Cristina Magli, et al.
Human Mutation|May 15, 2002
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screeningJoseph L Bobadilla, Milan Macek, Jason P Fine, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|March 8, 2005
Topology of chromosomes 18 and X in human blastomeres from 3- to 4-day-old embryosJan Diblík, Milan Macek, Maria-Cristina Magli, et al.
Clinical Biochemistry|May 12, 2009
Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR genePatricia A Norambuena, Joshua A Copeland, Petra Krenková, et al.
The Application of Clinical Genetics|October 23, 2025
Intragenic <i>TTN</i> Deletions in a Single Family with Dilated CardiomyopathyMarketa Wayhelova, Petra Peldova, Alice Krebsova, et al.
Pageof 15

Showing results (11-20 of 148) with videos related to

Sort By:
Pageof 15
European Journal of Human Genetics : EJHG|December 4, 2008
Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratoriesJana Camajova, Sarah Berwouts, Gert Matthijs, et al.
Neuro Endocrinology Letters|October 3, 2014
Complex morphological and molecular genetic examination of amelogenesis imperfecta: a case presentation of two Czech siblings with a non-syndrome form of the diseaseTereza Kripnerova, Veronika Krulisova, Nikola Ptakova, et al.
Cancer Genetics|June 14, 2011
Increased sperm aneuploidy in two male carriers of germline TP53 mutationsPetra Paulasova, Jan Diblik, Marie Trkova, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 17, 2002
Association of human aging with a functional variant of klothoDan E Arking, Alice Krebsova, Milan Macek, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|October 25, 2008
Wilson disease as a cause of liver injury in cystic fibrosisRadana Kotalová, Milan Jirsa, Vera Vávrová, et al.
Prenatal Diagnosis|September 13, 2007
Chromosome topology in normal and aneuploid blastomeres from human embryosJan Diblík, Milan Macek, M Cristina Magli, et al.
Human Mutation|May 15, 2002
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screeningJoseph L Bobadilla, Milan Macek, Jason P Fine, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|March 8, 2005
Topology of chromosomes 18 and X in human blastomeres from 3- to 4-day-old embryosJan Diblík, Milan Macek, Maria-Cristina Magli, et al.
Clinical Biochemistry|May 12, 2009
Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR genePatricia A Norambuena, Joshua A Copeland, Petra Krenková, et al.
The Application of Clinical Genetics|October 23, 2025
Intragenic <i>TTN</i> Deletions in a Single Family with Dilated CardiomyopathyMarketa Wayhelova, Petra Peldova, Alice Krebsova, et al.
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