检索结果 - Milan Macek

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  1. 1
    Cystic fibrosis across Europe: EuroCareCF analysis of demographic data from 35 countries

    Cystic fibrosis across Europe: EuroCareCF analysis of demographic data from 35 countries 由 Gita Mehta, Milan Maçek, Anil Mehta

    出版 2010
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  2. 2
    Association of human aging with a functional variant of klotho

    Association of human aging with a functional variant of klotho 由 Dan E. Arking, Alice Krebsová, Milan Maçek, Milan Maçek, Albert Arking, Shahzad I. Mian, Linda F. Fried, Ada Hamosh, Srabani Dey, Iain McIntosh, Harry C. Dietz

    出版 2002
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  3. 3
    Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of<i>BRCA1</i>mutation scanning using the 96-well LightScanner™

    Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of<i>BRCA1</i>mutation scanning using the 96-well LightScanner™ 由 Nienke van der Stoep, Chantal D.M. van Paridon, Tom Janssens, Petra Křenková, A. Štambergová, Milan Maçek, Gert Matthijs, Egbert Bakker

    出版 2009
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  4. 4
    A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis

    A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis 由 John E. Mickle, Milan Maçek, Stephanie Fulmer-Smentek, Michelle Egan, Erik M. Schwiebert, William B. Guggino, Richard B. Moss, Garry R. Cutting

    出版 1998
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  5. 5
    Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema

    Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema 由 Ingo Marenholz, Vladimir A. Gimenez Rivera, Jorge Esparza-Gordillo, Anja Bauerfeind, Min-Ae Lee-Kirsch, Andrzej Ciechanowicz, Michael Kurek, T. Piskáčková, Milan Maçek, Young‐Ae Lee

    出版 2011
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  6. 6
    Survival estimates in European cystic fibrosis patients and the impact of socioeconomic factors: a retrospective registry cohort study

    Survival estimates in European cystic fibrosis patients and the impact of socioeconomic factors: a retrospective registry cohort study 由 Edward F. McKone, Cono Ariti, Abaigeal Jackson, Anna Zolin, S.B. Carr, Annalisa Orenti, Jacqui G. van Rens, Lydie Lemonnier, Milan Maçek, Ruth H. Keogh, Lutz Naehrlich

    出版 2021
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  7. 7
    Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy

    Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy 由 Jiří Bonaventura, Ethan J. Rowin, Raymond H. Chan, Michael T. Chin, Veronika Puchnerová, Eva Polaková, Milan Maçek, Pavel Votýpka, Rebecca Batorsky, Gayani Perera, Benjamin Koethe, Josef Veselka, Barry J. Maron, Martin S. Maron

    出版 2024
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  8. 8
    Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

    Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations 由 Elisabeth Dequeker, Manfred Stuhrmann, Michael A. Morris, Teresa Casals, Carlo Castellani, Mireille Claustres, Harry Cuppens, Marie des Georges, Claude Férec, Milan Maçek, Pierfranco Pignatti, Hans Scheffer, Marianne Schwartz, Michał Witt, Martin Schwarz, Emmanuelle Girodon

    出版 2008
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  9. 9
    Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

    Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis 由 Philip M. Farrell, Claude Férec, Milan Maçek, Thomas Frischer, Sabine Renner, Katharina Riss, David Barton, T. Repetto, Maria Tzetis, K. Giteau, Morten Dunø, Melissa B. Rogers, Hara Levy, Mourad Sahbatou, Yann Fichou, Cédric Le Maréchal, Emmanuelle Génin

    出版 2018
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  10. 10
    European Cystic Fibrosis Society Standards of Care: Framework for the Cystic Fibrosis Centre

    European Cystic Fibrosis Society Standards of Care: Framework for the Cystic Fibrosis Centre 由 Steven Conway, Ian M. Balfour‐Lynn, Karleen De Rijcke, Pavel Dřevı́nek, J. Foweraker, T. Havermans, Harry Heijerman, Louise Lannefors, Anders Lindblad, Milan Maçek, S. Madge, Maeve Moran, Lisa Morrison, Alison Morton, Jacquelien Noordhoek, Dorota Sands, A Vertommen, D. Peckham

    出版 2014
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  11. 11
    Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia

    Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia 由 Frauke Stanke, Tim Becker, Vinod Kumar, Silke Hedtfeld, Catherina G. Becker, Harry Cuppens, Stephanie Tamm, Jennifer Yarden, Ulrike Laabs, B. Siebert, Leandro Fernández‐Pérez, Milan Maçek, Dragica Radojković, Manfred Ballmann, Joachim Greipel, J.J. Cassiman, T. F. Wienker, B. Tümmler

    出版 2010
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  12. 12
    A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe

    A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe 由 Andrey Khrunin, D. V. Khokhrin, Irina Filippova, Tõnu Esko, Mari Nelis, Natalia A. Bebyakova, Natalia L. Bolotova, Jānis Kloviņš, Liene Ņikitina-Zaķe, Karola Rehnström, Samuli Ripatti, Stefan Schreiber, André Franke, Milan Maçek, Veronika Krulišová, Jan Lubiński, Andres Metspalu, Limborskaia Sa

    出版 2013
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  13. 13
    Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

    Opportunistic genomic screening. Recommendations of the European Society of Human Genetics 由 Guido de Wert, Wybo Dondorp, Angus Clarke, Elisabeth Dequeker, Christophe Cordier, Zandra C. Deans, Carla van El, Florence Fellmann, Ros Hastings, Sabine Hentze, Heidi Howard, Milan Maçek, Álvaro Mendes, Christine Patch, Emmanuelle Rial‐Sebbag, Vigdís Stefànsdóttir, Martina C. Cornel, Francesca Forzano

    出版 2020
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  14. 14
    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

    Recommendations of the ISBT Working Party on Granulocyte Immunobiology for leucocyte antibody screening in the investigation and prevention of antibody‐mediated transfusion‐related... 由 Philippe Bierling, Jürgen Bux, Brian R. Curtis, Brigitte K. Flesch, Yoke Lin Fung, G. Lucas, Milan Maçek, Eduardo Muñiz‐Díaz, Leendert Porcelijn, Angelika Reil, Ulrich J. Sachs, Randy M. Schuller, Nelson H. Tsuno, Małgorzata Uhrynowska, S. J. Urbaniak, Nathalie Valentin, Agneta Wikman, B Zupańska

    出版 2008
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  15. 15
    Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis

    Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis 由 Béla Nagy, Béla Nagy, Libor Fila, Luka A. Clarke, Ferenc Gönczy, Olga Bede, Dóra Nagy, Rita Újhelyi, Ágnes Szabó, Andrea Anghelyi, Miklós Major, Zsolt Bene, Zsolt Fejes, Péter Antal‐Szalmás, Harjit Pal Bhattoa, György Balla, János Kappelmayer, Margarida D. Amaral, Milan Maçek, István Balogh

    出版 2016
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  16. 16
    Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

    Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy 由 Joyce Harper, Joep Geraedts, Pascal Borry, Martina C. Cornel, Wybo Dondorp, Luca Gianaroli, G. Harton, Tanya Milachich, Helena Kääriäinen, Inge Liebaers, Michael A. Morris, Jorge Sequeiros, Karen Sermon, Françoise Shenfield, Heather Skirton, Sirpa Soini, Claudia Spits, Anna Veiga, Joris Vermeesch, Stéphane Viville, Guido de Wert, Milan Maçek

    出版 2013
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  17. 17
    Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy

    Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy 由 Athanassios Vozikis, D.N. Cooper, Christina Mitropoulou, Manousos E. Kambouris, Angela Brand, Vita Dolžan, Paolo Fortina, Federico Innocenti, Ming Ta Michael Lee, Lada Leyens, Milan Maçek, Fahd Al‐Mulla, Barbara Prainsack, Alessio Squassina, Domenica Taruscio, Ron HN van Schaik, Effy Vayena, Marc S. Williams, George P. Patrinos

    出版 2016
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  18. 18
    Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

    Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy 由 Joyce Harper, J.P.M. Geraedts, Pascal Borry, Martina C. Cornel, Wybo Dondorp, Luca Gianaroli, G. Harton, Tanya Milachich, H Kääriäinen, I. Liebærs, Michael A. Morris, Jorge Sequeiros, Karen Sermon, F. Shenfield, Heather Skirton, Sirpa Soini, Claudia Spits, Anna Veiga, Joris Vermeesch, Stéphane Viville, G. de Wert, Milan Maçek

    出版 2014
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  19. 19
    Reconstructing the Population History of European Romani from Genome-wide Data

    Reconstructing the Population History of European Romani from Genome-wide Data 由 Isabel Mendizabal, Óscar Lao, Urko M. Marigorta, Andreas Wollstein, Leonor Gusmão, V. Ferák, Mihai Ioana, Albena Jordanova, Radka Kaneva, Anastasia Kouvatsi, Vaidutis Kučinskas, Halyna Makukh, Andres Metspalu, Mihai G. Netea, Rosario de Pablo, Horolma Pamjav, Dragica Radojković, Sarah J.H. Rolleston, Jadranka Sertić, Milan Maçek, David Comas, Manfred Kayser

    出版 2012
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  20. 20
    Recent developments in genetics and medically assisted reproduction: from research to clinical applications

    Recent developments in genetics and medically assisted reproduction: from research to clinical applications 由 Joyce Harper, Kristiina Aittomäki, Pascal Borry, Martina C. Cornel, Guido de Wert, Wybo Dondorp, Joep Geraedts, Luca Gianaroli, K. Ketterson, I. Liebærs, Kersti Lundin, Heidi Mertes, Michael A. Morris, Guido Pennings, Karen Sermon, Claudia Spits, Sirpa Soini, Aafke P.A. van Montfoort, Anna Veiga, Joris Vermeesch, Stéphane Viville, Milan Maçek

    出版 2017
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