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المؤلفون: Alexei Savov, Albena Jordanova, Vanya Nedkova, Lidia Aneva, Peter Yanakiev, Arseni Markov, Luba Kalaydjieva, Joachim Hallmayer, Ivo Kremensky, Nils U. Bosshard, Ivailo Tournev, Suna Onengut, Brigitta Radeva, Anna Pérez-Lezaun, Dora Angelicheva, R Gitzelmann, Danielle E. Dye
المصدر: The American Journal of Human Genetics. 65:1299-1307
مصطلحات موضوعية: Galactosemias, Male, Roma, Adolescent, Molecular Sequence Data, Population, Locus (genetics), Biology, Roma Gypsies, Polymerase Chain Reaction, Protein Structure, Secondary, Galactokinase, Neonatal Screening, Galactokinase deficiency, Gene mapping, Genetics, medicine, Humans, Genetics(clinical), Amino Acid Sequence, Genetic Testing, Bulgaria, education, Genetics (clinical), Mass screening, DNA Primers, education.field_of_study, Romania, Founder population, Haplotype, Infant, Newborn, Articles, Physical Chromosome Mapping, medicine.disease, Pedigree, Galactosemia, cataracts, Mutation, GK1 gene, Female, Lod Score, Chromosomes, Human, Pair 17, Founder effect
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المؤلفون: Peter Yanakiev, Alessandro Malandrini, N.M. Maraldi, Luciano Merlini, A. Trogu, Luba Kalaydjieva, Patrizia Sabatelli, Marcello Villanova
المصدر: Neuromuscular Disorders. 8:182-185
مصطلحات موضوعية: Genetics, Roma, Adolescent, Genetic Linkage, Haplotype, Ethnic origin, Biology, medicine.disease, Genetic analysis, Microscopy, Electron, Haplotypes, Italy, Sural Nerve, Neurology, Pediatrics, Perinatology and Child Health, medicine, Humans, Neurology (clinical), Child, Hereditary Sensory and Motor Neuropathy, Hereditary motor and sensory neuropathy, Conserved Sequence, Genetics (clinical), Chromosomes, Human, Pair 8
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المؤلفون: Dušan Butinar, Luciano Merlini, Jon Andoni Urtizberea, Axinia Corches, Thomas Voit, David Gresham, Rebecca Gooding, Alexei Savov, P. K. Thomas, Martina Baethmann, Luba Kalaydjieva, Vania Nedkova, Jaume Colomer, Luchezar Karagyozov, Dora Angelicheva, Amelia Nikolova, Roos de Jonge, Brigitte Chabrol, Rosalind H.M. King, David Chandler, Karin Blechschmidt, Boryana Ishpekova, Danielle E. Dye, Peter Yanakiev, Ivailo Tournev, Bronya J.B. Keats, Lisa Heather, Frank Baas, Arnold Starr
المساهمون: Other departments
المصدر: Chandler, D; Angelicheva, D; Heather, L; Gooding, R; Gresham, D; Yanakiev, P; et al.(2000). Hereditary motor and sensory neuropathy-Lom (HMSNL): Refined genetic mapping in Romani (Gypsy) families from several European countries. Neuromuscular Disorders, 10(8), 584-591. doi: 10.1016/S0960-8966(00)00148-6. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/3dj3g474
Neuromuscular disorders, 10(8), 584-591. Elsevier Limitedمصطلحات موضوعية: Adult, Male, Roma, Adolescent, Genotype, DNA Mutational Analysis, Biology, Gene mapping, medicine, Humans, Child, Genetics (clinical), Genetics, Chromosome Mapping, Middle Aged, medicine.disease, Pedigree, Clinical neurology, Europe, Phenotype, Haplotypes, Neurology, Pediatrics, Perinatology and Child Health, Disease Progression, Demyelinating neuropathy, Microsatellite, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, Hereditary motor and sensory neuropathy
وصف الملف: application/pdf
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المؤلفون: P.H.S. Meijerink, Danielle E. Dye, Peter Yanakiev, Ina Zorn, Andrew J. Grierson, Hennie Bikker, Luba Kalaydjieva, Frank Baas
المساهمون: Other departments
المصدر: European Journal of Biochemistry / FEBS, 254(2), 297-303. Wiley-Blackwell
مصطلحات موضوعية: DNA, Complementary, LRP1B, Molecular Sequence Data, Proto-Oncogene Proteins pp60(c-src), Gene Expression, Biology, SYT1, Biochemistry, Polymerase Chain Reaction, Thyroglobulin, Mice, Exon trapping, Species Specificity, Gene cluster, HSPA2, Animals, Humans, Amino Acid Sequence, Cloning, Molecular, TAF15, Adaptor Proteins, Signal Transducing, DNA Primers, Genetics, Base Sequence, Chromosome Mapping, Exons, FOSL1, Molecular biology, Introns, Alternative Splicing, biology.protein, GRB2, Hereditary Sensory and Motor Neuropathy, Chromosomes, Human, Pair 8
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المؤلفون: Adriana Trogu, Luba Kalaydjieva, Marcello Villanova, Luciano Merlini, Peter Yanakiev, Cristina Bergonzoni, Stefano Stilli, Mariangela Zanetti, Patrizia Sabatelli
المصدر: Neuromuscular Disorders. 7:467
مصطلحات موضوعية: medicine.medical_specialty, Physical medicine and rehabilitation, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Hereditary motor and sensory neuropathy, medicine.disease, Genetics (clinical)
