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    1. Sambuughin, N; Nelson, TE; Jankovic, J; Xin, CL; Meissner, G; Mullakandov, M; Ji, J; Rosenberg, H; Sivakumar, K; Goldfarb, LG
      Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families

      NEUROMUSCULAR DISORDERS
    2. Bushara, KO; Goebel, SU; Shill, H; Goldfarb, LG; Hallett, M
      Gluten sensitivity in sporadic and hereditary cerebellar ataxia

      ANNALS OF NEUROLOGY
    3. Lee, HS; Brown, P; Cervenakova, L; Garruto, RM; Alpers, MP; Gajdusek, DC; Goldfarb, LG
      Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype

      JOURNAL OF INFECTIOUS DISEASES
    4. Altarescu, GM; Goldfarb, LG; Park, KY; Kaneski, C; Jeffries, N; Litvak, S; Nagle, JW; Schiffmann, R
      Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease

      CLINICAL GENETICS
    5. Zhou, YX; Qiao, WH; Gu, WH; Xie, H; Tang, BS; Zhou, LS; Yang, BX; Takiyama, Y; Tsuji, S; He, HY; Deng, CX; Goldfarb, LG; Wang, GX
      Spinocerebellar ataxia type 1 in China - Molecular analysis and genotype-phenotype correlation in 5 families

      ARCHIVES OF NEUROLOGY
    6. Dalakas, MC; Park, KY; Semino-Mora, C; Lee, HS; Sivakumar, K; Goldfarb, LG
      Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

      NEW ENGLAND JOURNAL OF MEDICINE
    7. Butefisch, CM; Gambetti, P; Cervenakova, L; Park, KY; Hallett, M; Goldfarb, LG
      Inherited prion encephalopathy associated with the novel PRNP H187R mutation - A clinical study

      NEUROLOGY
    8. Cervenakova, L; Protas, II; Hirano, A; Votiakov, VI; Nedzved, MK; Kolomiets, ND; Taller, I; Park, KY; Sambuughin, N; Gajdusek, DC; Brown, P; Goldfarb, LG
      Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS)

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    9. Park, KY; Dalakas, MC; Goebel, HH; Ferrans, VJ; Semino-Mora, C; Litvak, S; Takeda, K; Goldfarb, LG
      Desmin splice variants causing cardiac and skeletal myopathy

      JOURNAL OF MEDICAL GENETICS
    10. Park, KY; Dalakas, MC; Semino-Mora, C; Lee, HS; Litvak, S; Takeda, K; Ferrans, VJ; Goldfarb, LG
      Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation

      CLINICAL GENETICS
    11. Sivakumar, K; Sambuughin, N; Selenge, B; Nagle, JW; Baasanjav, D; Hudson, LD; Goldfarb, LG
      Novel exon 3B proteolipid protein gene mutation causing late-onset spasticparaplegia type 2 with variable penetrance in female family members

      ANNALS OF NEUROLOGY
    12. Cervenakova, L; Buetefisch, C; Lee, HS; Taller, I; Stone, G; Gibbs, CJ; Brown, P; Hallett, M; Goldfarb, LG
      Novel PRNP sequence variant associated with familial encephalopathy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    13. Lee, HS; Sambuughin, N; Cervenakova, L; Chapman, J; Pocchiari, M; Litvak, S; Qi, HY; Budka, H; del Ser, T; Furukawa, H; Brown, P; Gajdusek, DC; Long, JC; Korczyn, AD; Goldfarb, LG
      Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease

      AMERICAN JOURNAL OF HUMAN GENETICS
    14. GOLDFARB LG; PARK KY; CERVENAKOVA L; GOROKHOVA S; LEE HS; VASCONCELOS O; NAGLE JW; SEMINOMORA C; SIVAKUMAR K; DALAKAS MC
      MISSENSE MUTATIONS IN DESMIN ASSOCIATED WITH FAMILIAL CARDIAC AND SKELETAL MYOPATHY

      Nature genetics
    15. SAMBUUGHIN N; KOFFMAN B; DALAKAS MC; SMITH ACM; CERVENAKOVA L; MECK J; GARVEY M; SYED N; HALLETT M; GOLDFARB LG
      ROUSSY-LEVY-SYNDROME IS ASSOCIATED WITH A DNA DUPLICATION ON CHROMOSOME 17P11.2

      Annals of neurology
    16. CERVENAKOVA MD; PROTAS II; BROWN P; TALLER I; VOTIAKOV VI; GAJDUSEK DC; GOLDFARB LG
      A CLUSTER OF FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS IN A BYELARUS FOUNDER POPULATION

      Annals of neurology
    17. GOLDFARB LG; PLATONOV FA; CERVENAKOVA L; MCLEAN CL; MASTERS C; GAJDUSEK DC; ALEXEEV VP; KRIVOSHAPKIN VG
      VILIUISK ENCEPHALOMYELITIS - AN EMERGING CONTAGIOUS-DISEASE

      Annals of neurology
    18. CHAPMAN J; CERVENAKOVA L; LEE HS; ESTUPINAN J; RICHARDSON S; VNENCAKJONES CL; GAJDUSEK DC; KORCZYN AD; BROWN P; GOLDFARB LG
      APOE IN NON-ALZHEIMER AMYLOIDOSES - TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES

      Neurology
    19. ZHOU YX; WANG GX; TANG BS; LI WD; WANG DA; LEE HS; SAMBUUGHIN N; ZHOU LS; TSUJI S; YANG BX; GOLDFARB LG
      SPINOCEREBELLAR ATAXIA TYPE-2 IN CHINA - MOLECULAR ANALYSIS AND GENOTYPE-PHENOTYPE CORRELATION IN 9 FAMILIES

      Neurology
    20. GOLDFARB LG; LEE HS; ISAACSON S; CHAPMAN J; GOROKHOVA S; CERVENAKOVA L
      THE ALA53THR POINT MUTATION IN THE ALPHA-SYNUCLEIN GENE IS ABSENT IN ASHKENAZI JEWISH PATIENTS WITH FAMILIAL OR SPORADIC PARKINSONS-DISEASE

      Neurology
    21. LEE HS; SAMBUUGHIN N; CERVENAKOVA L; CHAPMAN J; AVIV R; POCCHIARI M; KORCZYN A; AVIV R; GAJDUSEK C; BROWN P; LITVAK S; GOLDFARB LG
      ANCESTRAL ORIGINS OF THE PRNP E200K MUTATION CAUSING FAMILIAL CREUTZFELDT-JAKOB-DISEASE

      Neurology
    22. SAMBUUGHIN N; SIVAKUMAR K; SELENGE B; FRIEDLICH D; LEE HS; BAASNAJAV D; DALAKAS MC; GOLDFARB LG
      AUTOSOMAL-DOMINANT DISTAL SPINAL MUSCULAR ATROPHY CHARCOT-MARIE-TOOTHTYPE-2 DISEASE IN A MONGOLIAN KINDRED MAPS TO A 3 CM REGION ON CHROMOSOME 7P15/

      Neurology
    23. BROWN P; CERVENAKOVA L; MCSHANE L; GOLDFARB LG; BISHOP K; BASTIAN F; KIRKPATRICK J; PICCARDO P; GHETTI B; GAJDUSEK DC
      CREUTZFELDT-JAKOB-DISEASE IN A HUSBAND-AND-WIFE

      Neurology
    24. CERVENAKOVA L; GOLDFARB LG; GARRUTO R; LEE HS; GAJDUSEK DC; BROWN P
      PHENOTYPE-GENOTYPE STUDIES IN KURU - IMPLICATIONS FOR NEW VARIANT CREUTZFELDT-JAKOB-DISEASE

      Proceedings of the National Academy of Sciences of the United Statesof America
    25. Sambuughin, N; Sivakumar, K; Selenge, B; Lee, HS; Friedlich, D; Baasanjav, D; Dalakas, MC; Goldfarb, LG
      Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    26. CERVENAKOVA L; BROWN P; GAJDUSEK DC; GOLDFARB LG
      UNSTABLE 24-NUCLEOTIDE REPEAT EXPANSION IN TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES

      Annals of neurology
    27. MCLEAN CA; MASTERS CL; VLADIMIRTSEV VA; PROKHOROVA IA; GOLDFARB LG; ASHER DM; VLADIMIRTSEV AI; ALEKSEEV VP; GAJDUSEK DC
      VILIUISK ENCEPHALOMYELITIS - REVIEW OF THE SPECTRUM OF PATHOLOGICAL-CHANGES

      Neuropathology and applied neurobiology
    28. ELHACHIMI KH; CERVENAKOVA L; BROWN P; GOLDFARB LG; RUBENSTEIN R; GAJDUSEK DC; FONCIN JF
      MIXED FEATURES OF ALZHEIMER-DISEASE AND CREUTZFELDT-JAKOB-DISEASE IN A FAMILY WITH A PRESENILIN-1 MUTATION IN CHROMOSOME-14

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    29. CHABRASHVILI TZ; VASCONCELOS O; MASSAQUOI S; GOLDFARB LG
      HAPLOTYPE ANALYSIS INDICATES AN INDEPENDENT ORIGIN OF A MACHADO-JOSEPH DISEASE ALLELE IN AN AFRICAN-AMERICAN FAMILY

      Annals of neurology
    30. CERVENAKOVA L; SIVAKUMAR K; NAGLE J; DALAKAS MC; GOLDFARB LG
      IS HEREDITARY INCLUSION-BODY MYOPATHY A FAMILIAL PRION DISEASE

      Annals of neurology
    31. GOLDFARB LG; VASCONCELOS O; PLATONOV FA; LUNKES A; KIPNIS V; KONONOVA S; CHABRASHVILI T; VLADIMIRTSEV VA; ALEXEEV VP; GAJDUSEK DC
      UNSTABLE TRIPLET REPEAT AND PHENOTYPIC VARIABILITY OF SPINOCEREBELLARATAXIA TYPE-1

      Annals of neurology
    32. CHAPMAN J; KORCZYN AD; GOLDFARB LG
      FAMILIAL ALZHEIMERS-DISEASE ASSOCIATED WITH S182 CODON-286 MUTATION (VOL 346, PG 1040, 1995)

      Lancet
    33. COCHRAN EJ; BENNETT DA; CERVENAKOVA L; KENNEY K; BERNARD B; FOSTER NL; BENSON DF; GOLDFARB LG; BROWN P
      FAMILIAL CREUTZFELDT-JAKOB-DISEASE WITH A 5-REPEAT OCTAPEPTIDE INSERTMUTATION

      Neurology
    34. CHAPMAN J; ESTUPINAN J; ASHEROV A; GOLDFARB LG
      A SIMPLE AND EFFICIENT METHOD FOR APOLIPOPROTEIN-E GENOTYPE DETERMINATION

      Neurology
    35. CHAPMAN J; ARLAZOROFF A; GOLDFARB LG; CERVENAKOVA L; NEUFELD MY; WERBER E; HERBERT M; BROWN P; GAJDUSEK DC; KORCZYN AD
      FATAL INSOMNIA IN A CASE OF FAMILIAL CREUTZFELDT-JAKOB-DISEASE WITH THE CODON 200(LYS) MUTATION

      Neurology
    36. BROWN P; CHAPMAN J; CERVENAKOVA L; GOLDFARB LG; KORCZYN AD
      CELL-FREE EXPRESSION OF THE PRNP GENE CONTAINING A LARGE INSERT ASSOCIATED WITH CREUTZFELDT-JAKOB-DISEASE

      Neurology
    37. CHAPMAN J; ASHEROV A; TREVES TA; WANG NS; KORCZYN AD; GOLDFARB LG
      FAMILIAL ALZHEIMERS-DISEASE IN ISRAEL ASSOCIATED WITH AN S182 CODON-286 MUTATION ON CHROMOSOME-14

      Neurology
    38. GOLDFARB LG; CHAPMAN J; BROWN P; CERVENAKOVA L; GAJDUSEK DC; KORCZYN AD
      APOLIPOPROTEIN-E GENOTYPE IN HUMAN SPONGIFORM ENCEPHALOPATHIES

      Neurology
    39. HIGGINS JJ; NEE LE; VASCONCELOS O; IDE SE; LAVEDAN C; GOLDFARB LG; POLYMEROPOULOS MH
      MUTATIONS IN AMERICAN FAMILIES WITH SPINOCEREBELLAR ATAXIA (SCA) TYPE-3 - SCA3 IS ALLELIC TO MACHADO-JOSEPH DISEASE

      Neurology
    40. SIVAKUMAR K; CERVENAKOVA L; DALAKAS MC; LEONMONZON M; ISAACSON SH; NAGLE JW; VASCONCELOS O; GOLDFARB LG
      EXON-16 AND EXON-17 OF THE AMYLOID PRECURSOR PROTEIN GENE IN FAMILIALINCLUSION-BODY MYOPATHY

      Annals of neurology
    41. VASCONCELOS O; SIVAKUMAR K; DALAKAS MC; NAGLE J; QUEZADO M; GOLDFARB LG
      NOVEL INTRONIC RETENTION IN M-SUBUNIT TRANSCRIPTS OF 3 ASHKENAZI JEWSWITH TARUIS-DISEASE

      Annals of neurology
    42. CHAPMAN J; ASHEROV A; WANG NS; TREVES TA; KORCZYN AD; GOLDFARB LG
      FAMILIAL ALZHEIMERS-DISEASE ASSOCIATED WITH S182 CODON-286 MUTATION

      Lancet
    43. GOLDFARB LG; BROWN P
      THE TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES

      Annual review of medicine
    44. REDER AT; MEDNICK AS; BROWN P; SPIRE JP; VANCAUTER E; WOLLMANN RL; CERENAKOVA L; GOLDFARB LG; GARAY A; OVSIEW F; GAJDUSEK DC; ROOS RP
      CLINICAL AND GENETIC-STUDIES OF FATAL FAMILIAL INSOMNIA

      Neurology
    45. CERVENAKOVA L; BROWN P; GOLDFARB LG; NAGLE J; PETTRONE K; RUBENSTEIN R; DUBNICK M; GIBBS CJ; GAJDUSEK DC
      INFECTIOUS AMYLOID PRECURSOR GENE-SEQUENCES IN PRIMATES USED FOR EXPERIMENTAL TRANSMISSION OF HUMAN SPONGIFORM ENCEPHALOPATHY (VOL 91, PG 12159, 1994)

      Proceedings of the National Academy of Sciences of the United Statesof America
    46. VASCONCELOS O; SIVAKUMAR K; DALAKAS MC; QUEZADO M; NAGLE J; LEONMONZON M; DUBNICK M; GAJDUSEK DC; GOLDFARB LG
      NONSENSE MUTATION IN THE PHOSPHOFRUCTOKINASE MUSCLE SUBUNIT GENE ASSOCIATED WITH RETENTION OF INTRON-10 IN ONE OF THE ISOLATED TRANSCRIPTS IN ASHKENAZI-JEWISH PATIENTS WITH TARUI DISEASE

      Proceedings of the National Academy of Sciences of the United Statesof America
    47. MCLEAN CA; MASTERS CL; VLADIMIRTSEV VA; PROKHOROVA IA; GOLDFARB LG; ASHER DM; ALEKSEEV IP; GAJDUSEK DC
      VILYUISK ENCEPHALITIS - MORPHOLOGIC SPECTRUM OF DISEASE, INCLUDING DEMYELINATION FOLLOWING SELF-INOCULATION WITH CEREBROSPINAL-FLUID

      Journal of neuropathology and experimental neurology
    48. VASCONCELOS O; SIVAKUMAR K; OUEZADO M; NAGLE J; MONZON M; DUBNICK M; DALAKAS MC; GAJDUSEK DC; GOLDFARB LG
      A NONSENSE MUTATION IN THE HUMAN PHOSPHOFRUCTOKINASE MUSCLE-SUBUNIT GENE ASSOCIATES WITH EXPRESSION OF MESSENGER-RNA SPECIES RETAINING INTRON-10 IN 3 ASHKENAZI JEWISH PATIENTS WITH GLYCOGENOSIS TYPE-VII

      American journal of human genetics
    49. CERVENAKOVA L; GOLDFARB LG; BROWN P; KENNEY K; COCHRAN EJ; BENNETT DA; ROOS R; GAJDUSEK DC
      3 NEW PRNP GENOTYPES ASSOCIATED WITH FAMILIAL CREUTZFELDT-JAKOB-DISEASE

      American journal of human genetics
    50. CERVENAKOVA L; SIVAKUMAR K; NAGLE J; ISAACSON S; DALAKAS MC; GOLDFARB LG
      SEQUENCE-ANALYSIS OF THE PRNP GENE IN HEREDITARY INCLUSION-BODY MYOPATHY

      American journal of human genetics
    51. GOLDFARB LG; BROWN P; CERVENAKOVA L; GAJDUSEK DC
      GENETIC-ANALYSIS OF CREUTZFELDT-JAKOB-DISEASE AND RELATED DISORDERS

      Philosophical transactions-Royal Society of London. Biological sciences
    52. GOLDFARB LG; BROWN P; CERVENAKOVA L; GAJDUSEK DC
      MOLECULAR-GENETIC STUDIES OF CREUTZFELDT-JAKOB-DISEASE

      Molecular neurobiology
    53. PETERSEN RB; GOLDFARB LG; TABATON M; BROWN P; MONARI L; CORTELLI P; MONTAGNA P; AUTILIOGAMBETTI L; GAJDUSEK DC; LUGARESI E; GAMBETTI P
      A NOVEL MECHANISM OF PHENOTYPIC HETEROGENEITY DEMONSTRATED BY THE EFFECT OF A POLYMORPHISM ON A PATHOGENIC MUTATION IN THE PRNP (PRION PROTEIN GENE)

      Molecular neurobiology
    54. BROWN P; GIBBS CJ; RODGERSJOHNSON P; ASHER DM; SULIMA MP; BACOTE A; GOLDFARB LG; GAJDUSEK DC
      HUMAN SPONGIFORM ENCEPHALOPATHY - THE NATIONAL-INSTITUTES-OF-HEALTH SERIES OF 300 CASES OF EXPERIMENTALLY TRANSMITTED DISEASE

      Annals of neurology
    55. BROWN P; CERVENAKOVA L; BOELLAARD JW; STAVROU D; GOLDFARB LG; GAJDUSEK DC
      IDENTIFICATION OF A PRNP GENE MUTATION IN JAKOBS ORIGINAL CREUTZFELDT-JAKOB-DISEASE FAMILY

      Lancet
    56. BROWN P; CERVENAKOVA L; GOLDFARB LG; GAJDUSEK DC; HAVERKAMP A; HAVERKAMP C; HORWITZ J; CREACY SD; BEVER RA; WEXLER P; SUJANSKY E; BJORK RJ
      MOLECULAR-GENETIC TESTING OF A FETUS AT RISK OF GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

      Lancet
    57. ARLAZOROFF A; CHAPMAN J; NEUFELD MY; WERBER E; KORCZYN AD; GOLDFARB LG; BROWN P; GAJDUSEK DC; GAMBETTI P
      FATAL INSOMNIA IN A CASE OF FAMILIAL CREUTZFELDT-JAKOB-DISEASE (CJD) WITH THE CODON 200(LYS) MUTATION

      Neurology
    58. MEDNICK AS; REDER AT; SPIRE JP; VANCAUTER E; BROWN P; WOLLMANN RL; GOLDFARB LG; GARAY A; OVSIEW F; GAJDUSEK DC; ROOS RP
      FATAL FAMILIAL INSOMNIA (FFI)

      Neurology
    59. BROWN P; CERVENAKOVA L; GOLDFARB LG; MCCOMBIE WR; RUBENSTEIN R; WILL RG; POCCHIARI M; MARTINEZLAGE JF; SCALICI C; MASULLO C; GRAUPERA G; LIGAN J; GAJDUSEK DC
      IATROGENIC CREUTZFELDT-JAKOB-DISEASE - AN EXAMPLE OF THE INTERPLAY BETWEEN ANCIENT GENES AND MODERN MEDICINE

      Neurology
    60. MONARI L; CHEN SG; BROWN P; PARCHI P; PETERSEN RB; MIKOL J; GRAY F; CORTELLI P; MONTAGNA P; GHETTI B; GOLDFARB LG; GAJDUSEK DC; LUGARESI E; GAMBETTI P; AUTILIOGAMBETTI L
      FATAL FAMILIAL INSOMNIA AND FAMILIAL CREUTZFELDT-JAKOB-DISEASE - DIFFERENT PRION PROTEINS DETERMINED BY A DNA POLYMORPHISM

      Proceedings of the National Academy of Sciences of the United Statesof America
    61. CERVENAKOVA L; BROWN P; GOLDFARB LG; NAGLE J; PETTRONE K; RUBENSTEIN R; DUBNICK M; GIBBS CJ; GAJDUSEK DC
      INFECTIOUS AMYLOID PRECURSOR GENE-SEQUENCES IN PRIMATES USED FOR EXPERIMENTAL TRANSMISSION OF HUMAN SPONGIFORM ENCEPHALOPATHY

      Proceedings of the National Academy of Sciences of the United Statesof America
    62. LUNKES A; GOLDFARB LG; PLATONOV FA; ALEXEEV VP; DUENASBARAJAS E; GAJDUSEK DC; AUBURGER G
      AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA (SCA) IN A SIBERIAN FOUNDERPOPULATION - ASSIGNMENT TO THE SCA1 LOCUS

      Experimental neurology
    63. GOLDFARB LG; BROWN P; LITTLE BW; CERVENAKOVA L; KENNEY K; GIBBS CJ; GAJDUSEK DC
      A NEW (2-REPEAT) OCTAPEPTIDE CODING INSERT MUTATION IN CREUTZFELDT-JAKOB-DISEASE

      Neurology
    64. GOLDFARB LG; BROWN P; HALTIA M; GHISO J; FRANGIONE B; GAJDUSEK DC
      SYNTHETIC PEPTIDES CORRESPONDING TO DIFFERENT MUTATED REGIONS OF THE AMYLOID GENE IN FAMILIAL CREUTZFELDT-JAKOB DISEASE SHOW ENHANCED INVITRO FORMATION OF MORPHOLOGICALLY DIFFERENT AMYLOID FIBRILS

      Proceedings of the National Academy of Sciences of the United Statesof America
    65. CHAPMAN J; BROWN P; GOLDFARB LG; ARLAZOROFF A; GAJDUSEK DC; KORCZYN AD
      CLINICAL HETEROGENEITY AND UNUSUAL PRESENTATIONS OF CREUTZFELDT-JAKOB-DISEASE IN JEWISH PATIENTS WITH THE PRNP CODON 200 MUTATION

      Journal of Neurology, Neurosurgery and Psychiatry
    66. TALLER AM; XIAO SY; GODEC MS; GLIGIC A; AVSICZUPANC T; GOLDFARB LG; YANAGIHARA R; ASHER DM
      BELGRADE VIRUS, A CAUSE OF HEMORRHAGIC-FEVER WITH RENAL SYNDROME IN THE BALKANS, IS CLOSELY-RELATED TO DOBRAVA VIRUS OF FIELD MICE

      The Journal of infectious diseases


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Documento generato il 12/08/20 alle ore 17:04:47