Rezultati - Colleen M. Donlin‐Smith
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 od Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet, Rowida Almomani, Kirsten R. Straasheijm, Yvonne D. Krom, Rinse Klooster, Yu Sun, Johan T. den Dunnen, Quinta Helmer, Colleen M. Donlin‐Smith, George W. Padberg, Baziel G.M. van Engelen, Jessica C. de Greef, Annemieke Aartsma‐Rus, Rune R. Frants, Marjolein Visser, Claude Desnuelle, Sabrina Sacconi, Galina N. Filippova, Egbert Bakker, Michael J. Bamshad, Stephen J. Tapscott, Daniel G. Miller, Silvère M. van der Maarel
Izdano 2012Artigo
Iskalna orodja:
Sorodne teme
Facioscapulohumeral muscular dystrophy
Muscular dystrophy
Biology
Gene
Genetics
Internal medicine
Medicine
Disease
Epigenetics
Bioinformatics
Chromatin
Chromosome
Cohort
Cohort study
Confidence interval
CpG site
DNA methylation
Disease registry
Downregulation and upregulation
Fold change
Gene expression
Immunology
Interquartile range
Multiplex
Oncology
Pediatrics
Prospective cohort study
Subtelomere