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1
المؤلفون: Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
المصدر: Nature Medicine. 28:1381-1389
مصطلحات موضوعية: General Medicine, General Biochemistry, Genetics and Molecular Biology
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2
المؤلفون: Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
المصدر: Nature Medicine. 28:1390-1397
مصطلحات موضوعية: General Medicine, General Biochemistry, Genetics and Molecular Biology
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3
المؤلفون: Kevin A, Strauss, Michelle A, Farrar, Francesco, Muntoni, Kayoko, Saito, Jerry R, Mendell, Laurent, Servais, Hugh J, McMillan, Richard S, Finkel, Kathryn J, Swoboda, Jennifer M, Kwon, Craig M, Zaidman, Claudia A, Chiriboga, Susan T, Iannaccone, Jena M, Krueger, Julie A, Parsons, Perry B, Shieh, Sarah, Kavanagh, Sitra, Tauscher-Wisniewski, Bryan E, McGill, Thomas A, Macek
المصدر: Nature medicine. 28(7)
مصطلحات موضوعية: Muscular Atrophy, Spinal, Survival of Motor Neuron 2 Protein, Neonatal Screening, Infant, Newborn, Humans, Infant, Spinal Muscular Atrophies of Childhood, Child
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4
المؤلفون: S. Kavanagh, Hugh J. McMillan, Michelle A. Farrar, Kevin A. Strauss, Jennifer M. Kwon, Douglas E. Feltner, Marcia Farrow, Elaine Kernbauer, F. Baldinetti, K. Saito, F.G. Ogrinc, James L’Italien, S.A. Spector, Susan T. Iannaccone, Mariacristina Scoto, Douglas M. Sproule, Claudia A. Chiriboga, Francesco Muntoni, J.M. Krueger, Bryan E. McGill, Julie A. Parsons, Kathryn J. Swoboda, Meredith Schultz
المصدر: Journal of the Neurological Sciences. 405:268-269
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Gene replacement therapy, Medicine, Neurology (clinical), Spinal muscular atrophy, business, medicine.disease, SMA
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5
المؤلفون: Francis G. Ogrinc, Meredith Schultz, Sidney A. Spector, Hugh J. McMillan, Michelle A. Farrar, Elaine Kernbauer, Kathryn J. Swoboda, Sarah T. Kavanagh, Julie Parsons, Douglas M. Sproule, Kevin A. Strauss, Bryan E. McGill, James L’Italien, Douglas E. Feltner, Marcia Farrow, Uwe Ernst
المصدر: Neuropediatrics.
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Gene replacement therapy, medicine, Urology, Spinal muscular atrophy, medicine.disease, SMA, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6257e8129226f920f24cc41cc31c25aa
https://doi.org/10.1055/s-0039-1698169 -
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المؤلفون: Kevin A. Strauss, Douglas E. Feltner, Elaine Kernbauer, Bryan E. McGill, DM Sproule, Kathryn J. Swoboda, Meredith Schultz, Francis G. Ogrinc
المصدر: Nervenheilkunde.
مصطلحات موضوعية: Clinical trial, medicine.medical_specialty, business.industry, Internal medicine, medicine, Spinal muscular atrophy, Baseline (configuration management), medicine.disease, Demographic data, business, SMA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5f3642a67e133fa7c36e2579cc80e775
https://doi.org/10.1055/s-0039-1685081 -
7
المؤلفون: Vijay Pratap Singh, Stephenson Chea, Toyonori Sakata, Julia O'Connor, Jennifer L. Gerton, Julia A. Horsfield, Kristin W. Barañano, Gholson J. Lyon, Ian D. Krantz, Bryan E. McGill, Richard E. Haaland, Patti Caudill, Douglas K. Clemens, Dale Dorsett, Masashige Bando, Antonie D. Kline, Cheri S. Carrico, Olivia L. Katz, Katsuhiko Shirahige, Suhas S.P. Rao, Aila K. Dommestrup, Sarah E. Raible, Antonio Musio, Anne L. Calof, Valentina Massa, Marco A. Grados
المصدر: Am J Med Genet A
مصطلحات موضوعية: Genetics, Microcephaly, Cornelia de Lange Syndrome, Cohesin complex, Cohesin, Biology, medicine.disease, Phenotype, Short stature, Article, Chromosome architecture, Intellectual disability, medicine, medicine.symptom, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86395ecc4bd39c11de89925d9bc11c35
https://europepmc.org/articles/PMC9987326/ -
8
المؤلفون: Francis G. Ogrinc, Michelle A. Farrar, Jennifer M. Kwon, James L’Italien, Kayoko Saito, Francesco Muntoni, Douglas M. Sproule, Imran Kausar, Susan T. Iannaccone, Claudia A. Chiriboga, Elaine Kernbauer, Meredith Schultz, Hugh J. McMillan, Kevin A. Strauss, Jena M. Krueger, Kathryn J. Swoboda, Bryan E. McGill, Mariacristina Scoto, Julie A. Parsons, Sarah Kavanagh, Marcia Farrow, Sidney A Spector, Douglas E. Feltner
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 90:e7.1-e7
مصطلحات موضوعية: Percentile, Pediatrics, medicine.medical_specialty, business.industry, Phases of clinical research, SMN1, Spinal muscular atrophy, Motor neuron, Sitting, SMA, medicine.disease, Asymptomatic, Psychiatry and Mental health, medicine.anatomical_structure, Medicine, Surgery, Neurology (clinical), medicine.symptom, business
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9
المؤلفون: S. Kavanagh, Bryan E. McGill, Kevin A. Strauss, Elaine Kernbauer, Douglas M. Sproule, Francis G. Ogrinc, Michelle A. Farrar, Julie A. Parsons, Sidney A Spector, Marcia Farrow, James L’Italien, Meredith Schultz, Hugh J. McMillan, Douglas E. Feltner, Kathryn J. Swoboda
المصدر: Neuromuscular Disorders. 29:S183
مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Gene replacement therapy, Urology, Medicine, Neurology (clinical), Spinal muscular atrophy, business, medicine.disease, SMA, Genetics (clinical)
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10
المؤلفون: Michael Wong, Peter L. Wang, David F. Wozniak, Jeffrey Milbrandt, Bryan E. McGill, Richard D. Head, Amy Strickland, Ruteja A. Barve, Susan E. Maloney, Nicholas Rensing
مصطلحات موضوعية: 0301 basic medicine, Male, CCCTC-Binding Factor, Dendritic spine, Transcription, Genetic, Gene Expression, Biology, 03 medical and health sciences, Mice, CAMK2A, medicine, Animals, Maze Learning, Social Behavior, Research Articles, Inflammation, Mice, Knockout, Neurons, Memory Disorders, Microglia, Integrases, Microarray analysis techniques, General Neuroscience, Electroencephalography, Microarray Analysis, Chromatin, Cell biology, 030104 developmental biology, medicine.anatomical_structure, nervous system, Cerebral cortex, CTCF, Forebrain, Cancer research, Female, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Psychomotor Performance
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa737eb64becb7f6a5db3a60a2fb7aad
https://europepmc.org/articles/PMC5761433/