Risultati della ricerca - Michał Witt
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Recent advances in primary ciliary dyskinesia genetics di Małgorzata Kurkowiak, Ewa Ziętkiewicz, Michał Witt
Pubblicazione 2014Revisão -
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Impact of SNPs on methylation readouts by Illumina Infinium HumanMethylation450 BeadChip Array: implications for comparative population studies di Patrycja Daca‐Roszak, Aleksandra Pfeifer, Jadwiga Żebracka‐Gala, Dagmara Rusinek, Aleksandra Szybińska, Barbara Jarząb, Michał Witt, Ewa Ziętkiewicz
Pubblicazione 2015Artigo -
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Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients di Ewa Ziętkiewicz, Zuzanna Bukowy‐Bieryłło, Katarzyna Voelkel, Barbara Klimek, Hanna Dmeńska, Andrzej Pogorzelski, A Sulikowska-Rowińska, Ewa Rutkiewicz, Michał Witt
Pubblicazione 2012Artigo -
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Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations di 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
Pubblicazione 2008Artigo -
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An international registry for primary ciliary dyskinesia di Claudius Werner, Martin Lablans, Maximilian Ataian, Johanna Raidt, Julia Wallmeier, Jörg Große-Onnebrink, Claudia E. Kuehni, Eric G. Haarman, Margaret W. Leigh, Alexandra L. Quittner, Jane S. Lucas, Claire Hogg, Michał Witt, Kostas Ν. Priftis, Panayiotis K. Yiallouros, Kim G. Nielsen, Francesca Santamaria, Frank Ückert, Heymut Omran
Pubblicazione 2015Artigo -
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DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm di Niki T. Loges, Heike Olbrich, Lale Fenske, Huda Mussaffi, Judit Horváth, Manfred Fliegauf, Heiner Kuhl, G Baktai, Erzsebet Peterffy, Rahul Chodhari, Eddie M.K. Chung, Andrew Rutman, Christopher O’Callaghan, Hannah Blau, László Tiszlavicz, Katarzyna Voelkel, Michał Witt, Ewa Ziętkiewicz, Jürgen Neesen, Richard Reinhardt, Hannah M. Mitchison, Heymut Omran
Pubblicazione 2008Artigo -
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Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations di Johanna Raidt, Sarah Riepenhausen, Petra Pennekamp, Heike Olbrich, Israel Amirav, Rodrigo Abensur Athanazio, Micha Aviram, Juan E. Balinotti, O. Baron, Sebastian F. N. Bode, Mieke Boon, Melissa Borrelli, S.B. Carr, Suzanne Crowley, Eleonora Dehlink, Sandra Diepenhorst, Peter Ďurdík, Bernd Dworniczak, Nagehan Emiralioğlu, Ela Erdem Eralp, Rossella Fonnesu, Serena Gracci, Jörg Große-Onnebrink, Karolina Gwozdziewicz, Eric G. Haarman, C.R. Hansen, Claire Hogg, Mathias Geldermann Holgersen, Eitan Kerem, Robert Walter Körner, Karsten Kötz, Panayiotis Κouis, Michael R. Loebinger, Natalie Lorent, Jane S. Lucas, Debora Maj, Marcus Mall, June K. Marthin, Vendula Martinů, Henryk Mazurek, Hannah M. Mitchison, Tabea Nöthe-Menchen, Uğur Özçelik, Massimo Pifferi, Andrzej Pogorzelski, Felix C. Ringshausen, Jobst Roehmel, Sandra Rovira‐Amigo, Nisreen Rumman, Anne Schlegtendal, Amelia Shoemark, Synne Sperstad Kennelly, Ben O. Staar, Sivagurunathan Sutharsan, Simon Thomas, Nicola Ullmann, Julian Varghese, Sandra von Hardenberg, Woolf T. Walker, Martin Wetzke, Michał Witt, Panayiotis K. Yiallouros, Anna Zschocke, Ewa Ziętkiewicz, Kim G. Nielsen, Heymut Omran
Pubblicazione 2024Artigo
Strumenti per la ricerca:
Soggetti correlati
Biology
Genetics
Gene
Medicine
Internal medicine
Bronchiectasis
Lung
Primary ciliary dyskinesia
Genotype
Bioinformatics
Cilium
Computational biology
Environmental health
Molecular biology
Mutation
Phenotype
Population
Botany
DNA
Disease
Endocrinology
Gene expression
Identification (biology)
Intensive care medicine
Motile cilium
Pathology
Pediatrics
Single-nucleotide polymorphism
Andrology
Aneuploidy