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1دورية أكاديمية
المؤلفون: Amanda G. Mason, Roderick C. Slieker, Judit Balog, Richard J. L. F. Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N. Filippova, Enrico Ne, Rabi Tawil, Bas T. Heijmans, Stephen J. Tapscott, Silvère M. van der Maarel
المصدر: Skeletal Muscle, Vol 7, Iss 1, Pp 1-13 (2017)
مصطلحات موضوعية: SMCHD1, FSHD, Chromatin, Methylation, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13395-017-0129-7Test; https://doaj.org/toc/2044-5040Test
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2
المؤلفون: Kohei, Hamanaka, Darina, Šikrová, Satomi, Mitsuhashi, Hiroki, Masuda, Yukari, Sekiguchi, Atsuhiko, Sugiyama, Kazumoto, Shibuya, Richard J L F, Lemmers, Remko, Goossens, Megumu, Ogawa, Koji, Nagao, Chikashi, Obuse, Satoru, Noguchi, Yukiko K, Hayashi, Satoshi, Kuwabara, Judit, Balog, Ichizo, Nishino, Silvère M, van der Maarel
المصدر: Neurology. 94(23)
مصطلحات موضوعية: Homeodomain Proteins, Male, Chromosomal Proteins, Non-Histone, Biopsy, Homozygote, Muscle Fibers, Skeletal, Cell Cycle Proteins, Fibroblasts, Middle Aged, Chromatin, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Consanguinity, Gene Expression Regulation, Codon, Nonsense, Gene Duplication, Humans, Protein Isoforms, Chromosomes, Human, Pair 4, Frameshift Mutation, Muscle, Skeletal, Cells, Cultured, Repetitive Sequences, Nucleic Acid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::424887ef59a55280f010388af952f0a4Test
https://pubmed.ncbi.nlm.nih.gov/32467132Test -
3
المؤلفون: Remko, Goossens, Marlinde L, van den Boogaard, Richard J L F, Lemmers, Judit, Balog, Patrick J, van der Vliet, Iris M, Willemsen, Julie, Schouten, Ignazio, Maggio, Nienke, van der Stoep, Rob C, Hoeben, Stephen J, Tapscott, Niels, Geijsen, Manuel A F V, Gonçalves, Sabrina, Sacconi, Rabi, Tawil, Silvère M, van der Maarel
المصدر: Journal of medical genetics. 56(12)
مصطلحات موضوعية: Adult, Gene Editing, Homeodomain Proteins, Male, Chromosomal Proteins, Non-Histone, Gene Expression, DNA Methylation, Middle Aged, Chromatin Assembly and Disassembly, Chromatin, Muscular Dystrophy, Facioscapulohumeral, Mutation, Humans, Female, Genetic Predisposition to Disease, CRISPR-Cas Systems, Chromosomes, Human, Pair 4, Muscle, Skeletal, Alleles, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::2ce3b68d71f1d3727e4dec4b19fc9578Test
https://pubmed.ncbi.nlm.nih.gov/31676591Test