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المؤلفون: S.M. van der Maarel, Jane E. Hewitt, R.J.L.F. Lemmers, George W. Padberg, Giancarlo Deidda, R.R. Frants, S. van Koningsbruggen, Tonnie Rijkers, M. van Geel, D. Figlewicz, J.C.T. van Deutekom
المصدر: Journal of Medical Genetics, 41, 826-36
Journal of Medical Genetics, 41, 11, pp. 826-36مصطلحات موضوعية: Male, Transcriptional Activation, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Myoblasts, Skeletal, Molecular Sequence Data, Chromosomal rearrangement, Biology, Muscle Development, Genetics, medicine, Humans, Gene family, Facioscapulohumeral muscular dystrophy, Genetic Predisposition to Disease, Amino Acid Sequence, Promoter Regions, Genetic, Gene, Cells, Cultured, Genetics (clinical), Base Sequence, Chromosomes, Human, Pair 10, Myogenesis, Nuclear Proteins, Proteins, Cell Differentiation, Promoter, medicine.disease, Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Muscular Dystrophy, Facioscapulohumeral, Up-Regulation, Chromosome 4, Female, Original Article, Chromosomes, Human, Pair 4
وصف الملف: application/pdf
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المؤلفون: J Weegenaar, J.T. den Dunnen, Ieke B. Ginjaar, Louise V.B. Anderson, J.C.T. van Deutekom, Mattie Bremmer-Bout, Egbert Bakker, J D v d Meulen, Alexander L. J. Kneppers
المصدر: European Journal of Human Genetics. 8:793-796
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Sequence analysis, Biopsy, RNA Splicing, Duchenne muscular dystrophy, DNA Mutational Analysis, Nonsense mutation, Biology, Muscular Dystrophies, Dystrophin, Immunoenzyme Techniques, Exon, Internal medicine, Genetics, medicine, Humans, Lymphocytes, Muscular dystrophy, Muscle, Skeletal, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, Genetic Variation, Exons, Middle Aged, medicine.disease, Exon skipping, Pedigree, Enhancer Elements, Genetic, Phenotype, Endocrinology, Codon, Nonsense, biology.protein, Female
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المؤلفون: Annemieke Aartsma-Rus, G.J.B. van Ommen, Kar Him Pang, Begoña Aguilera, Anneke A.M. Janson, J.C.T. van Deutekom, Hans Heemskerk
المصدر: Journal of Controlled Release. 132:e3-e5
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Phage display, Duchenne muscular dystrophy, Pharmaceutical Science, Biology, medicine.disease, Molecular biology, Exon skipping, Dmd gene, Antisense oligonucleotides, medicine, Abstract Summary, Homing (hematopoietic)
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المؤلفون: Ingrid G.M. Kolfschoten, Ruurd C. Verheul, J.C.T. van Deutekom, P.C. de Visser, Rudie Weij, A. Baghat, M.M. Plug, J.A.M. Janson, R.E.Y. van den Eijnde
المصدر: Neuromuscular Disorders. 24:820-821
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, mdx mouse, biology, Duchenne muscular dystrophy, medicine.disease, Exon skipping, Open reading frame, Exon, Neurology, Pediatrics, Perinatology and Child Health, RNA splicing, biology.protein, medicine, Homologous chromosome, Neurology (clinical), Dystrophin, Genetics (clinical)
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المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 85:A94-A95
مصطلحات موضوعية: Gene knockdown, business.industry, Mutant, Striatum, Pharmacology, medicine.disease, In vitro, Open field, Psychiatry and Mental health, chemistry.chemical_compound, chemistry, Huntington's disease, In vivo, Medicine, Surgery, Inositol, Neurology (clinical), business, Neuroscience
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المؤلفون: George W. Padberg, Hans G. Dauwerse, Prabhjit K. Grewal, Richard J.L.F. Lemmers, Jane E. Hewitt, M. van Geel, Rune R. Frants, S. Romberg, J.C.T. van Deutekom, Marten H. Hofker, T.J. Wright
المصدر: Human Molecular Genetics. 5:581-590
مصطلحات موضوعية: Untranslated region, DNA, Complementary, Molecular Sequence Data, Restriction Mapping, Biology, Polymerase Chain Reaction, Muscular Dystrophies, Exon, Gene mapping, Transcription (biology), Genetics, medicine, Animals, Humans, Facioscapulohumeral muscular dystrophy, Amino Acid Sequence, Molecular Biology, Gene, Alleles, In Situ Hybridization, Fluorescence, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Sheep, Base Sequence, Microfilament Proteins, Chromosome Mapping, Nuclear Proteins, Proteins, RNA-Binding Proteins, Haplorhini, General Medicine, Position-effect variegation, Blotting, Northern, medicine.disease, Molecular biology, Pedigree, Rats, Blotting, Southern, Chromosome 4, Gene Expression Regulation, Multigene Family, Chromosomes, Human, Pair 4
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef5d127117b589c5847820e550dc2c76
https://doi.org/10.1093/hmg/5.5.581 -
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المؤلفون: J.C.T. van Deutekom, M. Fabris, Alessandra Ferlini, Chiara Passarelli, Michele Laus, Paola Braghetta, Maria Sofia Falzarano, Patrizia Sabatelli, Katia Sparnacci, Elena Bassi, Paolo Bonaldo
مصطلحات موضوعية: Biodistribution, biology, Chemistry, Nanoparticle, Anatomy, Single injection, Pharmacology, Muscular dystrophy, Protein subcellular localization prediction, Neurology, In vivo, Pediatrics, Perinatology and Child Health, biology.protein, Protein biosynthesis, Oligoribonucleotides, Neurology (clinical), Dystrophin, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61df28a1815e2c071c8d2e5b790a2ced
http://hdl.handle.net/11577/2534122 -
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المؤلفون: J.C.T. van Deutekom, Nicole A. Datson, Rick Vermue, Janwillem Testerink, Anneke A.M. Janson, Rudie Weij, Suzanne Bijl
المصدر: Neuromuscular Disorders. 25:S291
مصطلحات موضوعية: mdx mouse, business.industry, Duchenne muscular dystrophy, Bioinformatics, medicine.disease, Molecular biology, Exon skipping, Neurology, Pediatrics, Perinatology and Child Health, Antisense oligonucleotides, Medicine, Neurology (clinical), Dosing, business, Genetics (clinical)
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المصدر: Clinical Neurology and Neurosurgery. 95:125-129
مصطلحات موضوعية: Genetics, business.industry, Inheritance (genetic algorithm), Genetic data, Spastic paraparesis, General Medicine, Penetrance, Genetic linkage, Anticipation (genetics), medicine, Surgery, Neurology (clinical), Spasticity, medicine.symptom, business
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المؤلفون: Ingrid G.M. Kolfschoten, J.C.T. van Deutekom, Anneke A.M. Janson, Suzanne Bijl, P.C. de Visser, R.E.Y. van den Eijnde, M.H.C. Zonneveld-Mulder
المصدر: Neuromuscular Disorders. 23:803-804
مصطلحات موضوعية: Mutation, Duchenne muscular dystrophy, RNA, Biology, medicine.disease, Bioinformatics, medicine.disease_cause, Exon skipping, Exon, Open reading frame, Neurology, In vivo, Pediatrics, Perinatology and Child Health, RNA splicing, medicine, Neurology (clinical), Genetics (clinical)