Výsledky vyhledávání - Iveta Valášková
- Zobrazuji výsledky 1 - 3 z 3
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A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human Autor Partha Sen, Romana Gerychová, Petr Janků, Marta Ježová, Iveta Valášková, C. Navarro, Iris A. L. Silva, Claire Langston, Stephen E. Welty, John W. Belmont, Paweł Stankiewicz
Vydáno 2012Artigo -
2
Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers Autor Man Li, Andrew Buckton, Stephen Wilkinson, Shibu John, Roddy Walsh, Tomáš Novotný, Iveta Valášková, Manu Gupta, Laurence Gamé, Paul J.R. Barton, Stuart A. Cook, James S. Ware
Vydáno 2013Artigo -
3
Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain Autor Partha Sen, Yaping Yang, C. Navarro, Iris A. L. Silva, Przemysław Szafrański, Katarzyna Kołodziejska, Avinash V. Dharmadhikari, Hasnaa R. Mostafa, Harry P. Kozakewich, Debra L. Kearney, John B. Cahill, Merrissa Whitt, Masha Bilic, Linda R. Margraf, Adrian Charles, Jack Goldblatt, Kathleen Gibson, Patrick E. Lantz, A. Julian Garvin, John K. Petty, Zeina Kiblawi, Craig W. Zuppan, Allyn McConkie‐Rosell, Marie McDonald, Stacey L. Peterson‐Carmichael, Jane T. Gaede, Binoy Shivanna, Deborah Schady, Philippe Friedlich, Stephen R. Hays, Irene Valenzuela, Ulrike Siebers‐Renelt, Axel Bohring, Laura S. Finn, Joseph R. Siebert, Csaba Galambos, Lananh Nguyen, Melissa Riley, Nicolas Chassaing, Adeline Vigouroux, Gustavo Rocha, Susana Fernandes, Jane E. Brumbaugh, Kari E. Roberts, Luk Ho-Ming, Ivan F. M. Lo, Stephen T.S. Lam, Romana Gerychová, Marta Ježová, Iveta Valášková, Florence Fellmann, Katayoun Afshar, Éric Giannoni, Vincent Muhlethaler, Jinlong Liang, J. Beckmann, Janet Lioy, Hitesh Deshmukh, Lakshmi Srinivasan, Daniel T. Swarr, Melissa Sloman, Charles Shaw‐Smith, Rosa Laura van Loon, Cecilia Hagman, Yves Sznajer, Catherine Barréa, Christine Galant, Thierry Detaille, Jennifer Wambach, F. Sessions Cole, Aaron Hamvas, Lawrence S. Prince, Karin E. M. Diderich, Alice S. Brooks, Robert M. Verdijk, Hari Ravindranathan, Ella Sugo, David Mowat, Michael Baker, Claire Langston, Stephen E. Welty, Paweł Stankiewicz
Vydáno 2013Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Genome
Missense mutation
Mutation
Allele
Bioinformatics
Computational biology
DNA methylation
DNA sequencer
DNA sequencing
Developmental psychology
Dysplasia
Exon
Frameshift mutation
Gene expression
Genomic imprinting
Haploinsufficiency
Haplotype
Human genome
Imprinting (psychology)
Ion semiconductor sequencing
Kidney
Massive parallel sequencing
Multiplex
Nonsense mutation
Nonsynonymous substitution
Personal genomics
Phenotype