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La ricerca find articoli where authors phrase all words ' Beutler, E' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 204 riferimenti
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    1. Beutler, E; Gelbart, T; West, C
      Synergy between TLR2 and TLR4: A safety mechanism

      BLOOD CELLS MOLECULES AND DISEASES
    2. Lee, PL; Halloran, C; Beutler, E
      Polymorphisms in the transferrin 5 ' flanking region associated with differences in total iron binding capacity: Possible implications in iron homeostasis

      BLOOD CELLS MOLECULES AND DISEASES
    3. Lee, PL; Halloran, C; West, C; Beutler, E
      Mutation analysis of the transferrin receptor-2 gene in patients with ironoverload

      BLOOD CELLS MOLECULES AND DISEASES
    4. Beutler, E
      Commentary: Mutations of transferrin receptor 2 (Trf-2) and iron storage disease

      BLOOD CELLS MOLECULES AND DISEASES
    5. Beutler, E; West, C; Speir, JA; Wilson, IA; Worley, M
      The HFE gene of browsing and grazing rhinoceroses: A possible site of adaptation to a low-iron diet

      BLOOD CELLS MOLECULES AND DISEASES
    6. Beutler, E
      The treatment of acute leukemia: past, present, and future

      LEUKEMIA
    7. Suzuki, M; West, C; Beutler, E
      Large-scale molecular screening for galactosemia alleles in a pan-ethnic population

      HUMAN GENETICS
    8. Kaplan, M; Hammerman, C; Beutler, E
      Hyperbilirubinaemia, glucose-6-phosphate dehydrogenase deficiency and Gilbert syndrome

      EUROPEAN JOURNAL OF PEDIATRICS
    9. Kaplan, M; Hammerman, C; Beutler, E
      Heterozygosity for a polymorphism in the promoter region of the UGT1A1 gene

      JOURNAL OF HEPATOLOGY
    10. Beutler, E; Felitti, V; Gelbart, T; Ho, N
      Genetics of iron storage and hemochromatosis

      DRUG METABOLISM AND DISPOSITION
    11. Beutler, E
      Subunit structure of the hexosaminidase isozymes

      TAY-SACHS DISEASE
    12. Kaplan, M; Hammerman, C; Vreman, HJ; Stevenson, DK; Beutler, E
      Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes

      JOURNAL OF PEDIATRICS
    13. Koziol, JA; Ho, NJ; Felitti, VJ; Beutler, E
      Reference centiles for serum ferritin and percentage of transferrin saturation, with application to mutations of the HFE gene

      CLINICAL CHEMISTRY
    14. Waalen, J; Beutler, E
      Comment on "Frequency of elevated serum transferrin saturation in elderly subjects"

      CLINICA CHIMICA ACTA
    15. Lee, PL; Halloran, C; Trevino, R; Felitti, V; Beutler, E
      Human transferrin G277S mutation: a risk factor for iron deficiency anaemia

      BRITISH JOURNAL OF HAEMATOLOGY
    16. Corrons, JLV; Alvarez, R; Pujades, A; Zarza, R; Oliva, E; Lasheras, G; Callis, M; Ribes, A; Gelbart, T; Beutler, E
      Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinicaland molecular studies

      BRITISH JOURNAL OF HAEMATOLOGY
    17. Beutler, E
      Discrepancies between genotype and phenotype in hematology: an important frontier

      BLOOD
    18. Beutler, E
      DNA-based diagnosis of red cell enzymopathies: how we threw out the baby with the bathwater

      BLOOD
    19. Beutler, E
      Introduction - Hemochromatosis population screening

      GENETIC TESTING
    20. Beutler, E; Gelbart, T
      Large-scale screening for HFE mutations: Methodology and cost

      GENETIC TESTING
    21. Iancovici-Kidon, M; Sthoeger, D; Abrahamov, A; Volach, B; Beutler, E; Gelbart, T; Barak, Y
      A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes

      BLOOD CELLS MOLECULES AND DISEASES
    22. Beutler, E
      Commentary: Dosage-response in the treatment of Gaucher disease by enzyme replacement therapy

      BLOOD CELLS MOLECULES AND DISEASES
    23. Beutler, E; Gelbart, T
      A common intron 3 mutation (IVS3-48c -> g) leads to misdiagnosis of the c.845G -> A (C282Y) HFE gene mutation

      BLOOD CELLS MOLECULES AND DISEASES
    24. Beutler, E
      Message from the editor

      BLOOD CELLS MOLECULES AND DISEASES
    25. Efferth, T; Osieka, R; Beutler, E
      Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen)

      BLOOD CELLS MOLECULES AND DISEASES
    26. Harder, H; Eucker, J; Zang, C; Possinger, K; Muller-Hocker, J; Beutler, E; Petrides, PE
      Coincidence of Gaucher's disease due to a 1226G/1448C mutation and of an immunoglobulin G lambda multiple myeloma with Bence-Jones proteinuria

      ANNALS OF HEMATOLOGY
    27. Beutler, E
      Introduction to Janet D Rowley

      LEUKEMIA
    28. Beutler, E; Koziol, JA
      The cladribine trial in secondary progressive multiple sclerosis: A reanalysis

      NEUROEPIDEMIOLOGY
    29. Motulsky, AG; Beutler, E
      Population screening in hereditary hemochromatosis

      ANNUAL REVIEW OF PUBLIC HEALTH
    30. Beutler, E
      Back to the future in RBC preservation

      TRANSFUSION
    31. Balicki, D; Reisfeld, RA; Pertl, U; Beutler, E; Lode, HN
      Histone H2A-mediated transient cytokine gene delivery induces efficient antitumor responses in murine neuroblastoma

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    32. Beutler, E; Gelbart, T; Lee, P; Trevino, R; Fernandez, MA; Fairbanks, VF
      Molecular characterization of a case of atransferrinemia

      BLOOD
    33. Beutler, E; Gelbart, T
      PK deficiency prevalence and the limitations of a population-based survey

      BLOOD
    34. Beutler, E; Gelbart, T
      Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population

      BLOOD
    35. Lee, PL; Halloran, C; Cross, AR; Beutler, E
      NADH-ferric reductase activity associated with dihydropteridine reductase

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    36. Beutler, E; Felitti, V; Gelbart, T; Ho, N
      The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic

      ANNALS OF INTERNAL MEDICINE
    37. Beutler, E; Liebman, H; Gelbart, T; Stefanski, E
      Three Gaucher-disease-producing mutations in a patient with Gaucher disease: Mechanism and diagnostic implications

      ACTA HAEMATOLOGICA
    38. Beutler, E
      Evidence for multiple hemochromatosis genes

      HEMOCHROMATOSIS: GENETICS, PATHOPHYSIOLOGY, DIAGNOSIS AND TREATMENT
    39. Romine, JS; Sipe, JC; Koziol, JA; Zyroff, J; Beutler, E
      A double-blind, placebo-controlled, randomized trial of cladribine in relapsing-remitting multiple sclerosis

      PROCEEDINGS OF THE ASSOCIATION OF AMERICAN PHYSICIANS
    40. Lee, PL; Ho, NJ; Olson, R; Beutler, E
      The effect of transferrin polymorphisms on iron metabolism

      BLOOD CELLS MOLECULES AND DISEASES
    41. Beutler, E; Felitti, VJ; Ho, NJ; Gelbart, T
      Commentary on HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors by Naveen Arya, Subrata Chakrabrati,Robert A. Hegele, Paul C. Adams

      BLOOD CELLS MOLECULES AND DISEASES
    42. Beutler, E; Felitti, VJ; Gelbart, T; Ho, N
      Commentary on significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis by J. Nico P. de Villiers and Maritha J. Kotze

      BLOOD CELLS MOLECULES AND DISEASES
    43. Koziol, JA; Lucero, A; Sipe, JC; Romine, JS; Beutler, E
      Responsiveness of the Scripps neurologic rating scale during a multiple sclerosis clinical trial

      CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
    44. Beutler, E; Luzzatto, L
      Hemolytic anemia

      SEMINARS IN HEMATOLOGY
    45. Kaplan, M; Beutler, E; Vreman, HJ; Hammerman, C; Levy-Lahad, E; Renbaum, P; Stevenson, DK
      Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficientheterozygotes

      PEDIATRICS
    46. Adams, HP; Wagner, S; Sobel, DF; Slivka, LS; Sipe, JC; Romine, JS; Beutler, E; Koziol, JA
      Hypointense and hyperintense lesions on magnetic resonance imaging in secondary-progressive MS patients

      EUROPEAN NEUROLOGY
    47. Roos, D; van Zwieten, R; Wijnen, JT; Gomez-Gallego, F; de Boer, M; Stevens, D; Pronk-Admiraal, CJ; de Rijk, T; van Noorden, CJF; Weening, RS; Vulliamy, TJ; Ploem, JE; Mason, PJ; Bautista, JM; Khan, PM; Beutler, E
      Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections

      BLOOD
    48. Beutler, E; Gelbart, T; Kondo, T; Matsunaga, AT
      The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency

      BLOOD
    49. Beutler, E
      Gaucher disease

      ARCHIVES OF INTERNAL MEDICINE
    50. Felitti, VJ; Beutler, E
      New developments in hereditary hemochromatosis

      AMERICAN JOURNAL OF THE MEDICAL SCIENCES
    51. Zimran, A; Wasser, G; Forman, L; Gelbart, T; Beutler, E
      Effect of ozone on red blood cell enzymes and intermediates

      ACTA HAEMATOLOGICA
    52. DEMINA A; BOAS E; BEUTLER E
      STRUCTURE AND LINKAGE RELATIONSHIPS OF THE REGION CONTAINING THE HUMAN L-TYPE PYRUVATE-KINASE (PKLR) AND GLUCOCEREBROSIDASE (GBA) GENES

      Hematopathology and molecular hematology
    53. JONES NL; LEE P; BEUTLER E
      INITIAL CHARACTERIZATION OF THE HFE GENE-PRODUCT

      Journal of investigative medicine
    54. LEE PL; GELBART T; WEST C; HALLORAN C; BEUTLER E
      THE HUMAN NRAMP2 GENE - CHARACTERIZATION OF THE GENE STRUCTURE, ALTERNATIVE SPLICING, PROMOTER REGION AND POLYMORPHISMS

      Blood cells, molecules, & diseases
    55. BEUTLER E
      COMMENTARY - THE NATURAL-HISTORY OF GAUCHER-DISEASE

      Blood cells, molecules, & diseases
    56. BEUTLER E; GELBART T
      HEMATOLOGICALLY IMPORTANT MUTATIONS - GAUCHER-DISEASE

      Blood cells, molecules, & diseases
    57. VLACHOS A; WESTWOOD B; LIPTON JM; BEUTLER E
      G6PD MOUNT-SINAI - A NEW SEVERE HEMOLYTIC VARIANT CHARACTERIZED BY DUAL MUTATIONS AT NUCLEOTIDES 376G AND 1159T (N126D)

      Human mutation
    58. PETRIDES PE; LECOUTRE P; MULLERHOCKER J; MAGIN E; HARZER K; DEMINA A; BEUTLER E
      COINCIDENCE OF GAUCHERS-DISEASE DUE TO A PRIVATE MUTATION AND PH' POSITIVE CHRONIC MYELOID-LEUKEMIA

      American journal of hematology
    59. BEUTLER E
      OHNO,SUSUMU - THE FATHER OF X-INACTIVATION

      Cytogenetics and cell genetics
    60. BURKE W; THOMSON E; KHOURY MJ; MCDONNELL SM; PRESS N; ADAMS PC; BARTON JC; BEUTLER E; BRITTENHAM G; BUCHANAN A; CLAYTON EW; COGSWELL ME; MESLIN EM; MOTULSKY AG; POWELL LW; SIGAL E; WILFOND BS; COLLINS FS
      HEREDITARY HEMOCHROMATOSIS - GENE DISCOVERY AND ITS IMPLICATIONS FOR POPULATION-BASED SCREENING

      JAMA, the journal of the American Medical Association
    61. Noor, M; Beutler, E
      Acquired sulfhemoglobinemia - An underreported diagnosis?

      WESTERN JOURNAL OF MEDICINE
    62. WAGNER S; SIPE JC; ROMINE JS; BEUTLER E; KOZIOL JA
      BASE-LINE DISABILITY MEASURED BY HYPODENSE LESIONS ON MRI IN RELAPSING-REMITTING MULTIPLE-SCLEROSIS - RESULTS OF A CLADRIBINE STUDY

      Neurology
    63. BOAS FE; FORMAN L; BEUTLER E
      PHOSPHATIDYLSERINE EXPOSURE AND RED-CELL VIABILITY IN RED-CELL AGING AND IN HEMOLYTIC-ANEMIA

      Proceedings of the National Academy of Sciences of the United Statesof America
    64. BEUTLER E
      TARGETED DISRUPTION OF THE HFE GENE

      Proceedings of the National Academy of Sciences of the United Statesof America
    65. BEUTLER E; GELBART T; DEMINA A
      RACIAL VARIABILITY IN THE UDP-GLUCURONOSYLTRANSFERASE-1 (UGT1A1) PROMOTER - A BALANCED POLYMORPHISM FOR REGULATION OF BILIRUBIN METABOLISM

      Proceedings of the National Academy of Sciences of the United Statesof America
    66. ALVAREZ R; ZARZA R; PUJADES A; OLIVA E; LASHERAS G; CALLIS M; RIBES A; BEUTLER E; CORRONS JLV
      HEREDITARY NONSPHEROCYTIC HEMOLYTIC-ANEMIA DUE TO RED-BLOOD-CELL GLUTATHIONE SYNTHETASE DEFICIENCY - CLINICAL AND BIOLOGICAL FINDINGS IN 4 UNRELATED SPANISH PATIENTS

      British Journal of Haematology
    67. SCHNEIDER A; FORMAN L; WESTWOOD B; YIM C; LIN J; SINGH S; BEUTLER E
      THE RELATIONSHIP OF THE -5, -8, AND -24 VARIANT ALLELES IN AFRICAN-AMERICANS TO TRIOSEPHOSPHATE ISOMERASE (TPI) ENZYME-ACTIVITY AND TO TPI DEFICIENCY

      Blood
    68. DEMINA A; VARUGHESE KI; BARBOT J; FORMAN L; BEUTLER E
      6 PREVIOUSLY UNDESCRIBED PYRUVATE-KINASE MUTATIONS CAUSING ENZYME DEFICIENCY

      Blood
    69. BARTON JC; BEUTLER E; GELBART T
      COINHERITANCE OF ALLELES ASSOCIATED WITH HEMOCHROMATOSIS AND HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

      Blood
    70. DEMINA A; BEUTLER E
      6 NEW GAUCHER-DISEASE MUTATIONS

      Acta haematologica
    71. WEIMER TA; SALZANO FM; WESTWOOD B; BEUTLER E
      G6PD VARIANTS IN 3 SOUTH-AMERICAN ETHNIC-GROUPS - POPULATION-DISTRIBUTION AND DESCRIPTION OF 2 NEW MUTATIONS

      Human heredity
    72. BEUTLER E
      COMMENTARY

      Blood cells, molecules, & diseases
    73. BEUTLER E; GELBART T
      HLA-H MUTATIONS IN THE ASHKENAZI JEWISH POPULATION

      Blood cells, molecules, & diseases
    74. MEDINA MD; VACA G; LOPEZGUIDO B; WESTWOOD B; BEUTLER E
      MOLECULAR-GENETICS OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY INMEXICO

      Blood cells, molecules, & diseases
    75. BEUTLER E; WEST C; BRITTON HA; HARRIS J; FORMAN L
      GLUCOSEPHOSPHATE ISOMERASE (GPI) DEFICIENCY MUTATIONS ASSOCIATED WITHHEREDITARY NONSPHEROCYTIC HEMOLYTIC-ANEMIA (HNSHA)

      Blood cells, molecules, & diseases
    76. XU WM; BEUTLER E
      AN EXONIC POLYMORPHISM IN THE HUMAN GLUCOSE PHOSPHATE ISOMERASE (GPI)GENE

      Blood cells, molecules, & diseases
    77. VULLIAMY T; LUZZATTO L; HIRONO A; BEUTLER E
      HEMATOLOGICALLY IMPORTANT MUTATIONS - GLUCOSE-6-PHOSPHATE-DEHYDROGENASE

      Blood cells, molecules, & diseases
    78. BEUTLER E; WEST C
      NEW DIALLELIC MARKERS IN THE HLA REGION OF CHROMOSOME-6

      Blood cells, molecules, & diseases
    79. BEUTLER E; GELBART T
      HEMATOLOGICALLY IMPORTANT MUTATIONS - GAUCHER-DISEASE

      Blood cells, molecules, & diseases
    80. BEUTLER E; WEST C; GELBART T
      HLA-H AND ASSOCIATED PROTEINS IN PATIENTS WITH HEMOCHROMATOSIS

      Molecular medicine
    81. BALICKI D; BEUTLER E
      HISTONE H2A SIGNIFICANTLY ENHANCES IN-VITRO DNA TRANSFECTION

      Molecular medicine
    82. BEUTLER E; WESTWOOD B; VANZWEITEN R; ROOS D
      G-]T TRANSITION AT CDNA NT-110 (K37Q) IN THE PKLR (PYRUVATE-KINASE) GENE IS THE MOLECULAR-BASIS OF A CASE OF HEREDITARY INCREASE OF RED-BLOOD-CELL ATP (VOL 9, PG 282, 1997)

      Human mutation
    83. BEUTLER E; WESTWOOD B; VANZWIETEN R; ROOS D
      G-]T TRANSITION AT CDNA NT-110 (K37Q) IN THE PKLR (PYRUVATE-KINASE) GENE IS THE MOLECULAR-BASIS OF A CASE OF HEREDITARY INCREASE OF RED-BLOOD-CELL ATP

      Human mutation
    84. BEUTLER E
      GAUCHER-DISEASE PHENOTYPES OUTFLANKED

      PCR methods and applications
    85. BEUTLER E
      ENZYME REPLACEMENT THERAPY FOR GAUCHERS-DISEASE

      Bailliere's clinical haematology
    86. LEE PL; GELBART T; WEST C; ADAMS M; BLACKSTONE R; BEUTLER E
      3 GENES ENCODING ZINC-FINGER PROTEINS ON HUMAN-CHROMOSOME 6P21.3 - MEMBERS OF A NEW SUBCLASS OF THE KRUPPEL GENE FAMILY CONTAINING THE CONSERVED SCAN BOX DOMAIN

      Genomics
    87. LECOUTRE P; DEMINA A; BEUTLER E; BECK M; PETRIDES PE
      MOLECULAR ANALYSIS OF GAUCHER-DISEASE - DISTRIBUTION OF 8 MUTATIONS AND THE COMPLETE GENE DELETION IN 27 PATIENTS FROM GERMANY

      Human genetics
    88. BEUTLER E
      GENETIC IRONY BEYOND HEMOCHROMATOSIS - CLINICAL EFFECTS OF HLA-H MUTATIONS

      Lancet
    89. SIPE JC; ROMINE JS; KOZIOL J; ZYROFF J; MCMILLAN R; BEUTLER E
      CLADRIBINE IMPROVES RELAPSING-REMITTING MS - A DOUBLE-BLIND, PLACEBO-CONTROLLED STUDY

      Neurology
    90. KAPLAN M; RENBAUM P; LEVYLAHAD E; HAMMERMAN C; LAHAD A; BEUTLER E
      GILBERT-SYNDROME AND GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY - ADOSE-DEPENDENT GENETIC INTERACTION CRUCIAL TO NEONATAL HYPERBILIRUBINEMIA

      Proceedings of the National Academy of Sciences of the United Statesof America
    91. ZIMMERMAN SA; WARE RE; FORMAN L; WESTWOOD B; BEUTLER E
      GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DURHAM - A DE-NOVO MUTATION ASSOCIATED WITH CHRONIC HEMOLYTIC-ANEMIA

      The Journal of pediatrics
    92. BEUTLER E
      HAIR IRON CONTENT - POSSIBLE MARKER TO COMPLEMENT MONITORING THERAPY OF IRON-DEFICIENCY IN PATIENTS WITH CHRONIC INFLAMMATORY BOWEL-DISEASE

      Clinical chemistry
    93. BEUTLER E
      HAIR IRON CONTENT - POSSIBLE MARKER TO COMPLEMENT MONITORING THERAPY OF IRON-DEFICIENCY IN PATIENTS WITH CHRONIC INFLAMMATORY BOWEL-DISEASE- RESPONSE

      Clinical chemistry
    94. GIGER U; RAJPUROHIT Y; WANG P; FORD S; KOHN B; NIGGEMEIER A; PATTERSON DF; BEUTLER E; HENTHORN PS
      MOLECULAR-BASIS OF ERYTHROCYTE PYRUVATE-KINASE (R-PK) DEFICIENCY IN CATS

      Blood
    95. KAPLAN M; RENBAUM P; LEVYLAHAD E; HAMMERMAN C; LAHAD A; BEUTLER E
      SEVERE NEONATAL ICTERUS IN SOME GLUCOSE-6-PHOSPHATE-DEHYDROGENASE (G-6-PD) DEFICIENT INFANTS IS EXPLAINED BY THE COMBINED EFFECT OF G-6-PD DEFICIENCY AND THE UDP-GLUCURONOSYLTRANSFERASE-1 (UDPGT1) PROMOTER POLYMORPHISM OF GILBERTS-SYNDROME - A NEW PARADIGM FOR MULTIGENIC DISEASE

      Blood
    96. BALICKI D; BEUTLER E
      HISTONE H2A SIGNIFICANTLY ENHANCES DNA TRANSDUCTION IN-VITRO

      Blood
    97. BOAS FE; FORMAN L; BEUTLER E
      PHOSPHATIDYLSERINE EXPOSURE AND RED-CELL VIABILITY IN RED-CELL AGING,STORAGE AND IN HEMOLYTIC-ANEMIA

      Blood
    98. DEMINA A; VARUGHESE KI; FORMAN L; BEUTLER E
      6 NEW PYRUVATE-KINASE (PK) MUTATIONS CAUSING HEREDITARY NONSPHEROCYTIC HEMOLYTIC-ANEMIA (HNSHA) - STRUCTURE FUNCTION RELATIONSHIPS/

      Blood
    99. SCHNEIDER A; FORMAN L; WESTWOOD B; YIM C; LIN J; BLACKSTONEGARDNER R; SINGH S; BEUTLER E
      NEW INSIGHTS INTO THE INTERRELATIONSHIPS OF THE -5, -8 AND -24 MUTATIONS WITH TRIOSEPHOSPHATE ISOMERASE (TPI) DEFICIENCY

      Blood
    100. BEUTLER E
      THE SIGNIFICANCE OF THE 187G (H63D) MUTATION IN HEMOCHROMATOSIS

      American journal of human genetics


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Documento generato il 25/05/20 alle ore 01:28:21