Milan Macek

发表

Minimum information required for a DMET experiment reporting.

Jyotishman Pathak, Panu Somervuo, Judit Kumuthini, 2016, Pharmacogenomics.

European workshop on genetic testing offer in Europe

Anthony J. Brookes, Gribaldo Laura, Milan Macek, 2013 .

Evaluation and introduction of new techniques in the genetic testing service by EuroGentest Unit 5

Gert Matthijs, Milan Macek, N Van der Stoep, 2007 .

EuroGentest: A collaborative network aimed at improving the quality of genetic testing

Milan Macek, David E. Barton, Tom Janssens, 2008 .

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide

Milan Macek, Charles R. Scriver, Sjozef van Baal, 2006, Nucleic Acids Res..

Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene

Milan Macek, Ada Hamosh, Bernard Mercier, 1997, Human mutation.

Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening

Milan Macek, J. Fine, M. Macek, 2002, Human mutation.

European Cystic Fibrosis Society Standards of Care: Framework for the Cystic Fibrosis Centre

Ian M. Balfour-Lynn, Milan Macek, Trudy Havermans, 2014, Journal of Cystic Fibrosis.

Correlation between Genetic and Geographic Structure in Europe

Christian Gieger, Jaume Bertranpetit, Michael Krawczak, 2008, Current Biology.

Human variome project country nodes: Documenting genetic information within a country

Mauno Vihinen, Andreas Hadjisavvas, Jim Kaput, 2012, Human mutation.

Benchmarks for cystic fibrosis carrier screening: a European consensus document.

Milan Macek, Bruno Dallapiccola, Pier Franco Pignatti, 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene.

Milan Macek, M. Macek, Patricia A Norambuena, 2009, Clinical biochemistry.

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis

Olfert Landt, Thomas Berg, Milan Macek, 2008, Nature Genetics.

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Manfred Stuhrmann, Milan Macek, Teresa Casals, 2009, European Journal of Human Genetics.

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Xavier Estivill, Manfred Stuhrmann, Milan Macek, 2004, American journal of human genetics.

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

Olfert Landt, Milan Macek, Bernhard Steiner, 2011, Human mutation.

Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.

Milan Macek, Gérard Lenoir, J. Sarles, 2010, American journal of respiratory and critical care medicine.