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المؤلفون: Hilde Van Esch, Luc Dehaspe, Kristl G. Claeys, Joris Vermeesch, Nathalie Goemans, Thomy de Ravel, Kris Van Den Bogaert, Valerie Race, Hilde Peeters, Eric Legius, Jazz Storms, Koenraad Devriendt, Nathalie Brison, Darine Villela, Liesbeth De Waele
المساهمون: Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Adult, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, endocrine system diseases, Noninvasive Prenatal Testing, Population, Sequence Analysis, DNA/ethics, 030105 genetics & heredity, DNA Copy Number Variations/genetics, Noninvasive Prenatal Testing/ethics, Dystrophin, 03 medical and health sciences, Prenatal Diagnosis, Prenatal Diagnosis/ethics, mental disorders, medicine, Humans, Copy-number variation, education, Genetics (clinical), Genetics, Dystrophin/genetics, Pregnancy, education.field_of_study, Incidental Findings, business.industry, Sequence Analysis, DNA, medicine.disease, Pathogenicity, fetus, NIPS, 030104 developmental biology, Prenatal screening, Dmd gene, secondary findings, Female, pregnancy, business, DMD gene, maternal CNV
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b58ddfaa22b0a77211f3e82a0ce36e8Test
https://lirias.kuleuven.be/handle/123456789/638443Test -
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المؤلفون: Nathalie Goemans, Eugenio Mercuri, Elena Belousova, Hirofumi Komaki, Alberto Dubrovsky, Craig M. McDonald, John E. Kraus, Afrodite Lourbakos, Zhengning Lin, Giles Campion, Susanne X. Wang, Craig Campbell, A. Araujo, E. Bertini, P. Born, C. Cances, B. Chabrol, J.-H. Chae, J. Colomer Oferil, G.P. Comi, J.-M. Cuisset, G. D'Anjou, I. Desguerre, R. Erazo Torricelli, R. Escobar, D. Feder, A. Ferlini, R. Giugliani, E. Henricson, A. Herczegfalvi, Y.-J. Jong, S. Kimura, J.-B. Kirschner, K. Kleinsteuber, A. Kostera-Pruszczyk, M. Kudr, W. Mueller-Felber, E.H. Niks, K. Ogata, C. Palermo, M. Pane, I. Pascual, Y. Pereon, S. Raskin, M. Rasmussen, U. Reed, U. Schara, K. Selby, C. Sobreira, Y. Takeshima, J.J. Vilchez Padilla, G. Vita, P. Vondracek, G. Wiegand, E. Wilichowski
المساهمون: Schara, Ulrike (Beitragende*r)
المصدر: Paediatrics Publications
Neuromuscular Disorders
Neuromuscular Disorders, 28(1), 4-15مصطلحات موضوعية: 0301 basic medicine, Duchenne muscular dystrophy, Male, medicine.medical_specialty, Adolescent, Population, six-minute walking distance, Medizin, Oligonucleotides, Phases of clinical research, Socio-culturale, Motor Activity, Placebo, Pediatrics, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Internal medicine, Statistical significance, Medicine, Humans, Antisense oligonucleotide, education, Adverse effect, Child, Drisapersen, Genetics (clinical), education.field_of_study, business.industry, Perinatology and Child Health, medicine.disease, Muscular Dystrophy, Duchenne, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Ambulatory, Neurology (clinical), 6-minute walking distance, antisense oligonucleotide, drisapersen, dystrophin, exon skipping, business, 030217 neurology & neurosurgery, Exon skipping, Biomarkers, Six-minute walking distance
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b23f19cae216fd0ab3f5c58c553a0a7Test
https://pubmed.ncbi.nlm.nih.gov/29203355Test -
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المؤلفون: Nathalie Goemans, Perry B. Shieh, Eugenio Mercuri, M. James, Maria Bernadete Dutra de Resende, Kathryn Selby, Jean K. Mah, Brigitte Chabrol, Juan J. Vílchez, Andrés Nascimento Osorio, Yann Péréon, Linda Lowes, Gihan Tennekoon, Leslie Nelson, Jahannaz Dastgir, Janbernd Kirschner, Thomas Voit, Haluk Topaloglu, Joseph McIntosh, Marcio Souza, Francesco Muntoni, Susan D. Apkon, Richard S. Finkel, Enrico Bertini, R. Spiegel, Kristi J. Jones, Timothy Lotze, Julie A. Parsons, Peter Riebling, Kristy Rose, Giuseppe Vita, H. Kroger, Tuyen Ong, H. Lee Sweeney, Susan T. Iannaccone, Michela Guglieri, Craig Campbell, Kevin M. Flanigan, Clemens Bloetzer, Xiaohui Luo, Peter Heydemann, Michelle Eagle, Anna Kamińska, Stuart W. Peltz, Peter I. Karachunski, Martin Kudr, Giacomi Pietro Comi, Hoda Abdel-Hamid, Lausanne Canton de Vaud, Craig M. McDonald, Basil T. Darras, Yoram Nevo, Ulrike Schara, Alexandra Prufer de Queiroz Campos Araujo, Lindsay N. Alfano, Russell J. Butterfield, J. Ben Renfroe, Thomas Sejersen, Erika Finanger, Gary Elfring, Katherine D. Mathews, Jong-Hee Chae, Isabelle Desguerre, Daehak-ro Jongno-gu, Raul G Escobar, Elena S. Mazzone, Anna Mayhew, Brenda Wong, Richard J. Barohn, Monique M. Ryan, Imelda Hughes, Ricardo Erazo Torricelli, Mar Tulinius
المصدر: Lancet
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Paediatrics Publicationsمصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Patients, Adolescent, Population, Nonsense mutation, Medizin, Subgroup analysis, Walking, Placebo, Global Health, Muscular Dystrophies, Dystrophin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Clinical endpoint, Medicine, Humans, Muscular Dystrophy, education, Child, Muscular Dystrophy, Duchenne, Muscular Dystrophies, Patients, education.field_of_study, Oxadiazoles, Intention-to-treat analysis, business.industry, duchenne, General Medicine, Ataluren, Muscular Dystrophy, Duchenne, 030104 developmental biology, Treatment Outcome, chemistry, Codon, Nonsense, Ambulatory, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595d3fa7afbaf20dfa8bca3b7d7c45eaTest
https://pubmed.ncbi.nlm.nih.gov/28728957Test -
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المؤلفون: S. Dorricott, Sjef J. de Kimpe, J.C.T. van Deutekom, Alessandra Ferlini, R. Wilson, Mar Tulinius, Annarita Armaroli, Afrodite Lourbakos, Erik H. Niks, G. Campion, Nathalie Goemans, A. Morgan
المصدر: Neuromuscular Disorders. 23:847
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, education.field_of_study, medicine.medical_specialty, biology, Duchenne muscular dystrophy, Population, Skeletal muscle, medicine.disease, Molecular biology, Exon skipping, Exon, Endocrinology, medicine.anatomical_structure, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, biology.protein, medicine, Neurology (clinical), Muscular dystrophy, Dystrophin, education, Genetics (clinical), Drisapersen
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5f553433245233ec76deff1fccf241cfTest
https://doi.org/10.1016/j.nmd.2013.06.718Test