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المؤلفون: D. Šišková, Kathrin Hühne, L. Baránková, Pavel Seeman, E. Vyhnálková, M. Bojar, Iva Sakmaryová, Bernd Rautenstrauss
المصدر: European Journal of Neurology. 15:548-551
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Roma, medicine.disease_cause, Frameshift mutation, Charcot-Marie-Tooth Disease, medicine, Humans, Nucleotide, In patient, Genetic Testing, Age of Onset, Gene, Sequence Deletion, Genetic testing, Early onset, chemistry.chemical_classification, Genetics, Mutation, Base Sequence, medicine.diagnostic_test, business.industry, Infant, Membrane Proteins, Pedigree, nervous system diseases, Neurology, chemistry, Child, Preschool, Female, Neurology (clinical), Age of onset, business, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d985a7449ddaa15ccd303bdadab8ffbTest
https://doi.org/10.1111/j.1468-1331.2008.02104.xTest -
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المؤلفون: M. Bojar, E. Vyhnálková, Luciano Merlini, P. De Jonghe, Eva Nelis, L. Baránková, Radim Mazanec, Iva Sakmaryová, Petr Vondráček, Pavel Seeman, Stephan Züchner
المصدر: Neuromuscular disorders
مصطلحات موضوعية: Adult, Male, Adolescent, media_common.quotation_subject, Nonsense, Population, Mutation, Missense, Nerve Tissue Proteins, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Charcot-Marie-Tooth Disease, medicine, Humans, Point Mutation, Missense mutation, Age of Onset, Allele, Child, education, Allele frequency, Alleles, Genetics (clinical), Aged, Czech Republic, 030304 developmental biology, media_common, Genetics, 0303 health sciences, Mutation, education.field_of_study, Muscle Weakness, Haplotype, Middle Aged, 3. Good health, Electrophysiology, Haplotypes, Neurology, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Age of onset, Algorithms, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e493c694b7bd8fcf8946cb825e00aa7Test
https://doi.org/10.1016/j.nmd.2007.02.010Test