Αποτελέσματα αναζήτησης - Rachel A. Peat
- Εμφανίζονται 1 - 8 Αποτελέσματα από 8
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R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation από Daniel C. Bartos, Sabine Duchatelet, Don E. Burgess, Didier Klug, Isabelle Denjoy, Rachel A. Peat, Jean‐Marc Lupoglazoff, Véronique Fressart, Myriam Berthet, Michael J. Ackerman, Craig T. January, Pascale Guicheney, Brian P. Delisle
Έκδοση 2010Artigo -
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Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene από Nigel F. Clarke, Svetlana Maugenre, Aurélie Vandebrouck, J. Andoni Urtizberea, Tobias Willer, Rachel A. Peat, Françoise Gray, C Bouchet, Hiroshi Manya, Sandrine Vuillaumier‐Barrot, Tamao Endo, Éliane Chouery, Kevin P. Campbell, André Mégarbané, Pascale Guicheney
Έκδοση 2011Artigo -
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Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis από Erik Schoenmakers, Bradley A. Carlson, Maura Agostini, Carla Moran, Odelia Rajanayagam, Elena G. Bochukova, Ryuta Tobe, Rachel A. Peat, Evelien Gevers, Francesco Muntoni, Pascale Guicheney, Nadia Schoenmakers, I. Sadaf Farooqi, Greta Lyons, Dolph L. Hatfield, Krishna Chatterjee
Έκδοση 2016Artigo -
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Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity από Rishika A. Pace, Rachel A. Peat, Naomi L. Baker, Laura Zamurs, Matthias Mörgelin, Melita Irving, Naomi E. Adams, John F. Bateman, David Mowat, Nicholas Smith, Phillipa J. Lamont, Steven A. Moore, Katherine D. Mathews, Kathryn N. North, Shireen R. Lamandé
Έκδοση 2008Artigo -
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Identification of a <i>KCNQ1</i> Polymorphism Acting as a Protective Modifier Against Arrhythmic Risk in Long-QT Syndrome από Sabine Duchatelet, Lia Crotti, Rachel A. Peat, Isabelle Denjoy, Hideki Itoh, Myriam Berthet, Seiko Ohno, Véronique Fressart, Maria Cristina Monti, Cristina Crocamo, Matteo Pedrazzini, Federica Dagradi, Alessandro Vicentini, Didier Klug, Paul A. Brink, Althea Goosen, Heikki Swan, Lauri Toivonen, Annukka M. Lahtinen, Kimmo Kontula, Wataru Shimizu, Minoru Horie, Alfred L. George, David‐Alexandre Trégouët, Pascale Guicheney, Peter J. Schwartz
Έκδοση 2013Revisão -
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Molecular consequences of dominant Bethlem myopathy collagen VI mutations από Naomi L. Baker, Matthias Mörgelin, Rishika A. Pace, Rachel A. Peat, Naomi E. Adams, R. J. McKinlay Gardner, Lewis P. Rowland, Geoffrey Miller, Peter De Jonghe, Berten Ceulemans, Mark C. Hannibal, Matthew Edwards, Elizabeth M. Thompson, Richard D. Jacobson, Rosaline C. M. Quinlivan, Salim Aftimos, Andrew J. Kornberg, Kathryn N. North, John F. Bateman, Shireen R. Lamandé
Έκδοση 2007Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Gene
Genetics
Medicine
Mutation
Internal medicine
Biochemistry
Chemistry
Collagen VI
Extracellular matrix
Genotype
Long QT syndrome
Myopathy
Pathology
Phenotype
QT interval
Allele
Amino acid
Asymptomatic
Biopsy
Bisphosphonate
Cardiology
Cell biology
Cell culture
Cellulose
Coding region
Compound heterozygosity
Congenital muscular dystrophy
Cysteine
Enzyme