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1
المؤلفون: Amandine Boyer, P. K. Thomas, Beate Schlotter, Elizabeth Freitas, Ian Martins, Rafaëlle Bernard, Boryana Ishpekova, Albena Jordanova, Jaume Colomer, Luba Kalaydjieva, Garth A. Nicholson, Thomas Voit, Velina Guergelcheva, Ivailo Tournev, Hanns Lochmüller, Michael Hunter, Nicolas Lévy, Ivo Kremensky, Bharti Morar
المصدر: Human Mutation. 22:129-135
مصطلحات موضوعية: Genetics, Mutation, Sequence analysis, Single-nucleotide polymorphism, Biology, medicine.disease_cause, medicine.disease, Phenotype, Pathogenesis, Exon, medicine, Hereditary motor and sensory neuropathy, Gene, Genetics (clinical)
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2دورية أكاديمية
المؤلفون: Michael Hunter, Rafaëlle Bernard, Elizabeth Freitas, Amandine Boyer, Bharti Morar, Ian J. Martins, Ivailo Tournev, Albena Jordanova, Velina Guergelcheva, Boryana Ishpekova, Ivo Kremensky, Garth Nicholson, Beate Schlotter, Hanns Lochmüller, Thomas Voit, Jaume Colomer, P.K. Thomas, Nicolas Levy, Luba Kalaydjieva
المصدر: Human Mutation; Aug2003, Vol. 22 Issue 2, p129-135, 7p
مصطلحات موضوعية: CHARCOT-Marie-Tooth disease, GENETIC mutation, NUCLEOTIDE sequence, GENETIC code, GENETIC polymorphisms, PHENOTYPES, ROMANIES
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3دورية أكاديمية
المؤلفون: Michael Hunter, Rafaëlle Bernard, Elizabeth Freitas, Amandine Boyer, Bharti Morar, Ian J. Martins, Ivailo Tournev, Albena Jordanova, Velina Guergelcheva, Boryana Ishpekova, Ivo Kremensky, Garth Nicholson, Beate Schlotter, Hanns Lochmüller, Thomas Voit, Jaume Colomer, P.K. Thomas, Nicolas Levy, Luba Kalaydjieva
المصدر: Human Mutation; Aug2003, Vol. 22 Issue 2, p129-135, 7p