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Milan Macek

Showing results (111-120 of 148) with videos related to

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Human Reproduction (Oxford, England)|July 10, 2014
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policyJoyce Harper, Joep Geraedts, Pascal Borry, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|April 6, 2010
Benchmarks for cystic fibrosis carrier screening: a European consensus documentCarlo Castellani, Milan Macek, Jean-Jacques Cassiman, et al.
Current Biology : CB|December 11, 2012
Reconstructing the population history of European Romani from genome-wide dataIsabel Mendizabal, Oscar Lao, Urko M Marigorta, et al.
European Journal of Human Genetics : EJHG|November 15, 2013
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and EmbryologyJoyce C Harper, Joep Geraedts, Pascal Borry, et al.
Plos One|January 30, 2025
Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver diseaseMagdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, et al.
Human Mutation|April 27, 2011
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferensBernhard Steiner, Jonas Rosendahl, Heiko Witt, et al.
Human Genetics|August 8, 2009
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping resultsRuslan Dorfman, Weili Li, Lei Sun, et al.
Frontiers in Physiology|May 25, 2023
<i>Amelogenesis imperfecta</i>: Next-generation sequencing sheds light on Witkop's classificationAgnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanismsClaude Férec, Teresa Casals, Nadia Chuzhanova, et al.
Nature Genetics|April 8, 2009
A common variant on chromosome 11q13 is associated with atopic dermatitisJorge Esparza-Gordillo, Stephan Weidinger, Regina Fölster-Holst, et al.
Pageof 15

Showing results (111-120 of 148) with videos related to

Sort By:
Pageof 15
Human Reproduction (Oxford, England)|July 10, 2014
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policyJoyce Harper, Joep Geraedts, Pascal Borry, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|April 6, 2010
Benchmarks for cystic fibrosis carrier screening: a European consensus documentCarlo Castellani, Milan Macek, Jean-Jacques Cassiman, et al.
Current Biology : CB|December 11, 2012
Reconstructing the population history of European Romani from genome-wide dataIsabel Mendizabal, Oscar Lao, Urko M Marigorta, et al.
European Journal of Human Genetics : EJHG|November 15, 2013
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and EmbryologyJoyce C Harper, Joep Geraedts, Pascal Borry, et al.
Plos One|January 30, 2025
Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver diseaseMagdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, et al.
Human Mutation|April 27, 2011
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferensBernhard Steiner, Jonas Rosendahl, Heiko Witt, et al.
Human Genetics|August 8, 2009
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping resultsRuslan Dorfman, Weili Li, Lei Sun, et al.
Frontiers in Physiology|May 25, 2023
<i>Amelogenesis imperfecta</i>: Next-generation sequencing sheds light on Witkop's classificationAgnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanismsClaude Férec, Teresa Casals, Nadia Chuzhanova, et al.
Nature Genetics|April 8, 2009
A common variant on chromosome 11q13 is associated with atopic dermatitisJorge Esparza-Gordillo, Stephan Weidinger, Regina Fölster-Holst, et al.
Pageof 15