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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fffad68236c0f786a67ca205f29b152eTest
https://doi.org/10.1002/mus.25491Test -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3257448dc926ad825225c043d2c0793Test
https://europepmc.org/articles/PMC6503527Test/ -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::52fd0ce573a0e6cf4eb9906f4c07488dTest
https://pubmed.ncbi.nlm.nih.gov/27875632Test