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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