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المؤلفون: Sergey Paushkin, Charlotte J. Sumner, Frank Rigo, Ian Waters, Pamela J. Snyder, Thomas W. Prior, Shannon J. Taylor, Constantin d’Ydewalle, Christine L. Hatem, Nikhil Gupte, Thomas O. Crawford, Daniel A. Norris, John B. Matson, Amal Dakka, Kathryn J. Swoboda, C. Frank Bennett, Phillip G. Zaworski, Nikolai Naryshkin, Vijayalakshmi Gabbeta, Stephanie Klein, Daniel M. Ramos, David Valdivia
المصدر: Journal of Clinical Investigation. 129:4817-4831
مصطلحات موضوعية: Male, 0301 basic medicine, Aging, medicine.medical_specialty, Neuromuscular disease, Cell Survival, animal diseases, Oligodeoxyribonucleotides, Antisense, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, 0302 clinical medicine, Atrophy, Internal medicine, Humans, Medicine, Motor Neurons, Messenger RNA, business.industry, Neurodegeneration, General Medicine, Motor neuron, medicine.disease, SMA, Spinal cord, nervous system diseases, Survival of Motor Neuron 2 Protein, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, nervous system, Spinal Cord, 030220 oncology & carcinogenesis, Female, Autopsy, Clinical Medicine, business
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2
المؤلفون: Huolin Tu, Pamela J. Snyder, John Madison, Dan Jones, Richard Eltringham, Huanyu Wang, Amy Leber, Sophonie Jean
المصدر: J Clin Microbiol
مصطلحات موضوعية: 0301 basic medicine, Microbiology (medical), SARS-CoV-2, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Strain typing, COVID-19, Virulence, Biology, medicine.disease_cause, Virology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation, Spike Glycoprotein, Coronavirus, Mutation (genetic algorithm), Multiplex polymerase chain reaction, medicine, Humans, Multiplex, Spike (software development), 030212 general & internal medicine, Multiplex Polymerase Chain Reaction, Coronavirus
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16ed9d75a4ad12d26c9bb0371b4dcb34
https://doi.org/10.1128/jcm.00926-21 -
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المؤلفون: Pamela J. Snyder, Huolin Tu, Dan Jones, John Madison, Richard Eltringham, Amy Leber, Sophonie Jean, Huanyu Wang
مصطلحات موضوعية: Whole genome sequencing, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Mutation (genetic algorithm), Screening method, Virulence, Identification (biology), Multiplex, Spike (software development), Computational biology, Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::54e04fbda6e23613a7ebcfd9f171c5b8
https://doi.org/10.1101/2021.04.22.21255574 -
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المؤلفون: Thomas W. Prior, Stephen J. Kolb, Corey Ruhno, John T. Kissel, Arthur H. M. Burghes, W. David Arnold, Pamela J. Snyder, Vicki L. McGovern, Jennifer Roggenbuck, Stanley Iyadurai
المصدر: Muscle & Nerve. 56:341-345
مصطلحات موضوعية: 0301 basic medicine, Weakness, Pathology, medicine.medical_specialty, Physiology, business.industry, Hearing loss, Cardiomyopathy, Sensory loss, medicine.disease, Phenotype, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, Physiology (medical), Genotype, Medicine, Neurology (clinical), medicine.symptom, Age of onset, business, Myopathy
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المؤلفون: Matthew R. Avenarius, Jennifer S Roggenbuck, Abdurrahman W. Muhtaseb, Flávia C. Nery, Pamela J. Snyder, John T. Kissel, Kathryn J. Swoboda, Pann H. Nwe, Vicki L. McGovern, Thomas W. Prior, Arthur H.M. Burghes, Ren Z Zhang, Jennifer J. Siranosian, Alec J. Johnstone, Valeria A. Sansone, Corey Ruhno
مصطلحات موضوعية: Candidate gene, Genetic Linkage, Gene Dosage, Inheritance Patterns, SMN1, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Gene Frequency, Genetics, medicine, Humans, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, Base Sequence, 030305 genetics & heredity, Intron, Computational Biology, High-Throughput Nucleotide Sequencing, Spinal muscular atrophy, medicine.disease, SMA, Molecular biology, Survival of Motor Neuron 1 Protein, nervous system diseases, Pedigree, Survival of Motor Neuron 2 Protein, Phenotype, Gene Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3257448dc926ad825225c043d2c0793
https://europepmc.org/articles/PMC6503527/ -
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المؤلفون: Stanley, Iyadurai, W David, Arnold, John T, Kissel, Corey, Ruhno, Vicki L, Mcgovern, Pamela J, Snyder, Thomas W, Prior, Jennifer, Roggenbuck, Arthur H, Burghes, Stephen J, Kolb
المصدر: Musclenerve. 56(2)
مصطلحات موضوعية: Adult, Family Health, Male, Myosin Type II, Genotype, Myosin Heavy Chains, Genetic Linkage, Action Potentials, Middle Aged, Article, Phenotype, North America, Humans, Female, Hereditary Sensory and Motor Neuropathy, Muscle, Skeletal
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المؤلفون: Patricia I. Botma, Sandi L. Talbott, Gerald L. Feldman, Jin Fang, Thomas W. Prior, Fatimah A. Nahhas, Thomas J. Monroe, Pamela J. Snyder
المصدر: Genetic Testing and Molecular Biomarkers. 16:187-192
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Biology, Polymerase Chain Reaction, law.invention, Fragile X Mental Retardation Protein, law, medicine, Humans, Allele, Alleles, Genetics (clinical), Polymerase chain reaction, Genetics, Clinical Laboratory Techniques, Electrophoresis, Capillary, General Medicine, Methylation, DNA Methylation, medicine.disease, Molecular biology, FMR1, Fragile X syndrome, Blotting, Southern, Fragile X Syndrome, Mutation, DNA methylation, Mutation (genetic algorithm), Female, Indicators and Reagents, Reagent Kits, Diagnostic, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::112288f15696c23b406f57b58ff760bf
https://doi.org/10.1089/gtmb.2011.0128 -
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المؤلفون: Pamela J. Snyder, Manisha H. Shah, Steffen Sammet, Lai Wei, Elaine T. Lam, Minden Collamore, Vasyl Vasko, Matthew D. Ringel, Richard T. Kloos, Jeffrey F. Moley, John Wright, Daria Arbogast, Miguel A. Villalona-Calero, Jiachao Liang, Motoyasu Saji, Michael V. Knopp, Paul E. Wakely, Thomas W. Prior, Nathan Hall
المصدر: Journal of Clinical Oncology. 28:2323-2330
مصطلحات موضوعية: Adult, Male, Niacinamide, Sorafenib, Oncology, Cancer Research, medicine.medical_specialty, Pathology, Time Factors, Pyridines, Administration, Oral, Kaplan-Meier Estimate, Vandetanib, Proto-Oncogene Mas, Disease-Free Survival, Young Adult, Internal medicine, Biomarkers, Tumor, Clinical endpoint, medicine, Carcinoma, Humans, Thyroid Neoplasms, Protein Kinase Inhibitors, Aged, business.industry, Phenylurea Compounds, Benzenesulfonates, Proto-Oncogene Proteins c-ret, Medullary thyroid cancer, Middle Aged, medicine.disease, Magnetic Resonance Imaging, United States, Clinical trial, Receptors, Vascular Endothelial Growth Factor, Treatment Outcome, Medullary carcinoma, Carcinoma, Medullary, Positron-Emission Tomography, Mutation, Female, Tomography, X-Ray Computed, business, Progressive disease, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fbe633e34a9de624630b7797f594c7e
https://doi.org/10.1200/jco.2009.25.0068 -
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المؤلفون: E. A. Renard, William Arnold, Thomas W. Prior, E. J. Poi, Miriam Freimer, John T. Kissel, Stephen J. Kolb, Victoria H. Lawson, S. Sutton, S. Gu, Amy Bartlett, Pamela J. Snyder
المصدر: Neurology. 74:502-506
مصطلحات موضوعية: Candidate gene, DNA Mutational Analysis, Mutant, Pilot Projects, medicine.disease_cause, Cohort Studies, Hsp27, Heat shock protein, medicine, Humans, Gene family, Missense mutation, Genetic Predisposition to Disease, Heat-Shock Proteins, Family Health, Genetics, Mutation, biology, Middle Aged, Motor neuron, medicine.anatomical_structure, biology.protein, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae63f8d79a3ef613de5d8ad1f9ef5114
https://doi.org/10.1212/wnl.0b013e3181cef84a -
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المؤلفون: Thomas W. Prior, James R. Van Brocklyn, Dennis K. Pearl, Catherine A Jackson, Pamela J. Snyder, Mark S. Kotur
المصدر: Journal of Neuropathology and Experimental Neurology. 64:695-705
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Time Factors, Blotting, Western, Sphingosine kinase, Apoptosis, Cell Count, Cell Enlargement, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Cell Line, Tumor, Glioma, medicine, Humans, RNA, Messenger, Sphingosine-1-phosphate, RNA, Small Interfering, neoplasms, Gene knockdown, biology, Reverse Transcriptase Polymerase Chain Reaction, Cell growth, Cell Cycle, Sphingosine Kinase 2, General Medicine, Middle Aged, Blotting, Northern, medicine.disease, nervous system diseases, Gene Expression Regulation, Neoplastic, Phosphotransferases (Alcohol Group Acceptor), Receptors, Lysosphingolipid, SPHK2, Neurology, chemistry, Sphingosine kinase 1, Cancer research, biology.protein, Neurology (clinical), Glioblastoma