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21
المؤلفون: Mark Hallett, FI Pagan, J Leib, A Shatunov, Andrew B. Singleton, Esteban A. Fridman, Lev G. Goldfarb
المصدر: Clinical Genetics. 66:496-501
مصطلحات موضوعية: Genetics, Haplotype, Biology, medicine.disease, Virology, nervous system diseases, PRNP, mental disorders, Gene duplication, Genotype, Spinocerebellar ataxia, medicine, Allele, Trinucleotide repeat expansion, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f566c09e4d65f33f76893a03d5e094cdTest
https://doi.org/10.1111/j.1399-0004.2004.00356.xTest -
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المؤلفون: Aleksey Shatunov, Patrick Vicart, Lev G. Goldfarb, Marinos C. Dalakas, Montse Olivé, Isidro Ferrer, Ayush Dagvadorj, Anna Fidziańska, Monique Simon-Casteras, Hubert Kwieciński, Anna Kamińska, Bertrand Goudeau, Sergei V. Strelkov
المصدر: Human Genetics. 114:306-313
مصطلحات موضوعية: Adult, Male, Models, Molecular, Molecular Sequence Data, Muscle Fibers, Skeletal, macromolecular substances, Biology, Transfection, medicine.disease_cause, Desmin, Cricetinae, Genetics, medicine, Animals, Humans, Intermediate Filament Protein, Myocyte, Amino Acid Sequence, Musculoskeletal Diseases, Muscle, Skeletal, Myopathy, Genetics (clinical), Sequence Deletion, Mutation, Sequence Homology, Amino Acid, Myocardium, Middle Aged, Molecular biology, Human genetics, Pedigree, Heptad repeat, Female, medicine.symptom, Cardiomyopathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f433619ab8d4eae65474c47291e94084Test
https://doi.org/10.1007/s00439-003-1057-7Test -
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المؤلفون: David Goldman, Rick A. Kittles, Robert W. Robin, Michael V. Osier, Connie J. Mulligan, Lev G. Goldfarb, Nyamkhishig Sambuughin, Jeffrey C. Long, Diane Hesselbrock
المصدر: Human Genetics. 113:325-336
مصطلحات موضوعية: Genetic Markers, Genetic Linkage, Population, Binge drinking, Aldehyde dehydrogenase, Context (language use), Linkage Disequilibrium, Gene Frequency, Genetics, Humans, Allele, education, Genetics (clinical), ALDH2, education.field_of_study, Ethanol, biology, Aldehyde Dehydrogenase, Mitochondrial, Alcohol dependence, Alcohol Dehydrogenase, Genetic Variation, ADH1B, Aldehyde Dehydrogenase, Alcoholism, Haplotypes, Indians, North American, biology.protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a39f0cc11443fa3e1037b9d90af40124Test
https://doi.org/10.1007/s00439-003-0971-zTest -
24
المؤلفون: Lev G. Goldfarb, Ralph M. Garruto, Igor Uspensky
المصدر: Journal of Medical Entomology. 40:119-122
مصطلحات موضوعية: General Veterinary, biology, Range (biology), Ecology, Taiga, Parasitiformes, Ixodes persulcatus, Tick, biology.organism_classification, Infectious Diseases, Insect Science, Vector (epidemiology), Parasitology, Acari, Ixodidae
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d485e64a92507f93288094a4c33cac46Test
https://doi.org/10.1603/0022-2585-40.1.119Test -
25
المؤلفون: Paul Brown, Pierluigi Gambetti, Lev G. Goldfarb, Herbert Budka, Aleksey Shatunov, Hee Suk Lee, Larisa Cervenakova, Ayush Dagvadorj, Robert B. Petersen
المصدر: Annals of Neurology. 52:355-359
مصطلحات موضوعية: Adult, Male, Amyloid, Prions, animal diseases, Biology, medicine.disease_cause, Prion Proteins, Prion Diseases, PRNP, mental disorders, medicine, Humans, Point Mutation, Protein Precursors, Child, Gene, Aged, Family Health, Genetics, Mutation, Transmissible spongiform encephalopathy, Point mutation, Haplotype, Chromosome, medicine.disease, Virology, Pedigree, nervous system diseases, Haplotypes, Neurology, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaab98b2405791bfca89429862b6618bTest
https://doi.org/10.1002/ana.10267Test -
26
المؤلفون: Fernando Rodrigues-Lima, Sylvie Langlois, Patrick Vicart, Bertrand Goudeau, Monique Casteras-Simon, Patrick Nédellec, Ayush Dagvadorj, Lev G. Goldfarb, Emmanuelle Perret
المصدر: Human Mutation. 18:388-396
مصطلحات موضوعية: Genetics, 0303 health sciences, Mutation, Pathology, medicine.medical_specialty, Cardiomyopathy, Muscle weakness, macromolecular substances, Biology, medicine.disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Missense mutation, Myocyte, Desmin, medicine.symptom, Myopathy, Intermediate filament, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d20811dc7e400bcf354aa3b9d7c52899Test
https://doi.org/10.1002/humu.1210Test -
27
المؤلفون: Lev G. Goldfarb, Raphael Schiffmann, J W Nagle, N Jeffries, S Litvak, Gheona Altarescu, C Kaneski, Kye-Yoon Park
المصدر: Clinical Genetics. 60:46-51
مصطلحات موضوعية: Genetics, Mutation, Translational termination, Point mutation, Biology, medicine.disease, medicine.disease_cause, Fabry disease, Exon, Genotype, medicine, Missense mutation, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::375da063fe47b5c57c8e4859a565beb9Test
https://doi.org/10.1034/j.1399-0004.2001.600107.xTest -
28
المؤلفون: Svetlana Litvak, Marinos C. Dalakas, Hee-Suk Lee, Victor J. Ferrans, Christina Semino-Mora, Kazuyo Takeda, Lev G. Goldfarb, Kye-Yoon Park
المصدر: Clinical Genetics. 57:423-429
مصطلحات موضوعية: Genetics, Mutation, Pathology, medicine.medical_specialty, Haplotype, Muscle weakness, Single-nucleotide polymorphism, macromolecular substances, Biology, musculoskeletal system, medicine.disease, medicine.disease_cause, Loss of heterozygosity, Atrophy, medicine, Desmin, medicine.symptom, Myopathy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0e866170d59256a486693d119184595fTest
https://doi.org/10.1034/j.1399-0004.2000.570604.xTest -
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المؤلفون: Badamjav Selenge, Kumaraswamy Sivakumar, Damchaa Baasanjav, James W. Nagle, Nyamkhishig Sambuughin, Lynn D. Hudson, Lev G. Goldfarb
المصدر: Annals of Neurology. 45:680-683
مصطلحات موضوعية: Genetics, Cellular pathology, Mutation, Proteolipid protein 1, Late onset, Gene mutation, Biology, medicine.disease_cause, Penetrance, nervous system diseases, Exon, Neurology, immune system diseases, medicine, lipids (amino acids, peptides, and proteins), Neurology (clinical), Allele
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::49546fba0ab730808b1a5e22a099cee6Test
https://doi.org/10.1002/1531-8249Test(199905)45:5<680::aid-ana23>3.0.co;2-h -
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المؤلفون: Jeffrey C. Long, Amos D. Korczyn, Maurizio Pocchiari, Svetlana Litvak, Teodoro del Ser, Joab Chapman, Nyamkhishig Sambuughin, Hisako Furukawa, Paul Brown, D. Carleton Gajdusek, Hai Yan Qi, Larisa Cervenakova, Hee Suk Lee, Herbert Budka, Lev G. Goldfarb
المصدر: American Journal of Human Genetics. 64(4):1063-1070
مصطلحات موضوعية: Amyloid, Linkage disequilibrium, Creutzfeldt-Jakob Disease, PRNP mutation, Prions, Prion disease, Chromosomes, Human, Pair 20, Biology, Polymorphism, Single Nucleotide, Creutzfeldt-Jakob Syndrome, Linkage Disequilibrium, Prion Proteins, PRNP, Japan, Haplotype analysis, mental disorders, Prevalence, Genetics, Humans, Point Mutation, Genetics(clinical), Europe, Eastern, Protein Precursors, Codon, Letter to the Editor, Genetics (clinical), Family Health, Geography, Mediterranean Region, Haplotype, Founder Effect, nervous system diseases, Europe, Eastern european, Haplotypes, DNA polymorphism, Jews, Mutation (genetic algorithm), Familial Creutzfeldt-Jakob, Microsatellite Repeats, Founder effect
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341a7e710309eea6f84639387f42d8edTest
http://hdl.handle.net/2324/5542Test