Kết quả tìm kiếm - Milan Macek
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1
Cystic fibrosis across Europe: EuroCareCF analysis of demographic data from 35 countries Bằng Gita Mehta, Milan Maçek, Anil Mehta
Được phát hành 2010Artigo -
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Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of<i>BRCA1</i>mutation scanning using the 96-well LightScanner™ Bằng Nienke van der Stoep, Chantal D.M. van Paridon, Tom Janssens, Petra Křenková, A. Štambergová, Milan Maçek, Gert Matthijs, Egbert Bakker
Được phát hành 2009Artigo -
4
A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis Bằng John E. Mickle, Milan Maçek, Stephanie Fulmer-Smentek, Michelle Egan, Erik M. Schwiebert, William B. Guggino, Richard B. Moss, Garry R. Cutting
Được phát hành 1998Artigo -
5
Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema Bằng 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
Được phát hành 2011Artigo -
6
Survival estimates in European cystic fibrosis patients and the impact of socioeconomic factors: a retrospective registry cohort study Bằng 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
Được phát hành 2021Artigo -
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Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy Bằng 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
Được phát hành 2024Artigo -
8
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations Bằng 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
Được phát hành 2008Artigo -
9
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis Bằng 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
Được phát hành 2018Artigo -
10
European Cystic Fibrosis Society Standards of Care: Framework for the Cystic Fibrosis Centre Bằng 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
Được phát hành 2014Revisão -
11
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia Bằng 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
Được phát hành 2010Artigo -
12
A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe Bằng 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
Được phát hành 2013Artigo -
13
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics Bằng 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
Được phát hành 2020Artigo -
14
Recommendations of the ISBT Working Party on Granulocyte Immunobiology for leucocyte antibody screening in the investigation and prevention of antibody‐mediated transfusion‐related... Bằng 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
Được phát hành 2008Revisão -
15
Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis Bằng 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
Được phát hành 2016Artigo -
16
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction Bằng Miloš Kubánek, Tereza Schimerová, Lenka Piherová, Andreas Brodehl, Alice Krebsová, Sandra Ratnavadivel, Caroline Stanasiuk, Hana Hansíková, J Zeman, Tomáš Paleček, J Houštěk, Z Drahota, Hana Nůsková, Jana Mikešová, Josef Zámečnı́k, Milan Maçek, Petr Ridzoň, Jana Malušková, Viktor Stránecký, Vojtěch Melenovský, Hendrik Milting, Stanislav Kmoch
Được phát hành 2020Artigo -
17
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy Bằng 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
Được phát hành 2013Artigo -
18
Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy Bằng 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
Được phát hành 2016Revisão -
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Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy Bằng 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
Được phát hành 2014Artigo -
20
Reconstructing the Population History of European Romani from Genome-wide Data Bằng 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
Được phát hành 2012Artigo
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Các môn học liên quan
Biology
Genetics
Medicine
Gene
Internal medicine
Cystic fibrosis
Population
Genotype
Sociology
Demography
Environmental health
Computer science
Genetic testing
Intensive care medicine
Paleontology
Single-nucleotide polymorphism
Computational biology
Context (archaeology)
Evolutionary biology
Law
Mutation
Pathology
Pediatrics
Phenotype
Political science
Allele
Biochemistry
Endocrinology
Pregnancy
Bioinformatics