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    1. Brandhagen, DJ
      Liver transplantation for hereditary hemochromatosis

      LIVER TRANSPLANTATION
    2. Bassett, ML
      Haemochromatosis: iron still matters

      INTERNAL MEDICINE JOURNAL
    3. Enns, CA
      Pumping iron: the strange partnership of the hemochromatosis protein, a class I MHC homolog, with the transferrin receptor

      TRAFFIC
    4. Aisen, P; Enns, C; Wessling-Resnick, M
      Chemistry and biology of eukaryotic iron metabolism

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    5. Jorquera, F; Dominguez, A; Diaz-Golpe, V; Espinel, J; Munoz, F; Herrera, A; Fernandez-Gundin, MJ; Vivas, S; Olcoz, JL
      C282Y and H63D mutations of the haemochromatosis gene in patients with iron overload

      REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS
    6. Gradilla, PR; Martinez, AV; Arquero, MF; Garcia-Agundez, JA; Fernandez, FAG; Rodriguez, JB; Diaz-Rubio, M; de la Concha, EG; Quesada, JML
      C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease

      REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS
    7. Barton, JC; Acton, RT
      Inheritance of two HFE mutations in African Americans: Cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency

      GENETICS IN MEDICINE
    8. Martin, WL; West, AP; Gan, L; Bjorkman, PJ
      Crystal structure at 2.8 angstrom of an FcRn/heterodimeric Fc complex: Mechanism of pH-dependent binding

      MOLECULAR CELL
    9. Power, TE; Adams, PC
      Psychosocial impact of C282Y mutation testing for hemochromatosis

      GENETIC TESTING
    10. Byrnes, V; Ryan, E; Barrett, S; Kenny, P; Mayne, P; Crowe, J
      Genetic hemochromatosis, a Celtic disease: Is it now time for population screening?

      GENETIC TESTING
    11. Papanikolaou, G; Politou, M; Roetto, A; Bosio, S; Sakelaropoulos, N; Camaschella, C; Loukopoulos, D
      Linkage to chromosome 1q in Greek families with juvenile hemochromatosis

      BLOOD CELLS MOLECULES AND DISEASES
    12. Zanella, A; Bianchi, P; Iurlo, A; Boschetti, C; Taioli, E; Vercellati, C; Zappa, M; Fermo, E; Tavazzi, D; Sampietro, M
      Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: Study of Italian cases

      BLOOD CELLS MOLECULES AND DISEASES
    13. Sachot, S; Moirand, R; Jouanolle, AM; Mosser, J; Fergelot, P; Deugnier, Y; Brissot, P; le Gall, JY; David, V
      Low penetrant hemochromatosis phenotype in eight families: No evidence of modifiers in the MHC region

      BLOOD CELLS MOLECULES AND DISEASES
    14. Lucotte, G
      Frequency analysis and allele map in favor of the Celtic origin of the C282Y mutation of hemochromatosis

      BLOOD CELLS MOLECULES AND DISEASES
    15. Sanchez, M; Bruguera, M; Rodes, J; Oliva, R
      Complete characterization of the 3 ' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms

      BLOOD CELLS MOLECULES AND DISEASES
    16. Barton, EH; West, PA; Rivers, CA; Barton, JC; Acton, RG
      Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload

      BLOOD CELLS MOLECULES AND DISEASES
    17. Andrikovics, H; Kalmar, L; Bors, A; Fandl, B; Petri, I; Kalasz, L; Tordai, A
      Genotype screening for hereditary hemochromatosis among voluntary blood donors in hungary

      BLOOD CELLS MOLECULES AND DISEASES
    18. 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
    19. Gochee, PA; Powell, LW
      What's new in hemochromatosis

      CURRENT OPINION IN HEMATOLOGY
    20. Collins, A; Ennis, S; Taillon-Miller, P; Kwok, PY; Morton, NE
      Allelic association with SNPs: Metrics, populations, and the linkage disequilibrium map

      HUMAN MUTATION
    21. von Kempis, J
      Arthropathy in hereditary hemochromatosis

      CURRENT OPINION IN RHEUMATOLOGY
    22. Pozzato, G; Zorat, F; Nascimben, F; Gregorutti, M; Comar, C; Baracetti, S; Vatta, S; Bevilacqua, E; Belgrano, A; Crovella, S; Amoroso, A
      Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry

      EUROPEAN JOURNAL OF HUMAN GENETICS
    23. Thenie, AC; Gicquel, IM; Hardy, S; Ferran, H; Fergelot, P; Le Gall, JY; Mosser, J
      Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene

      HUMAN MOLECULAR GENETICS
    24. Tannapfel, A; Stolzel, U; Kostler, E; Melz, S; Richter, M; Keim, V; Schuppan, D; Wittekind, C
      C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    25. Porto, G; Cardoso, CS; Gordeuk, V; Cruz, E; Fraga, J; Areias, J; Oliveira, JC; Bravo, F; Gangaidzo, IT; MacPhail, AP; Gomo, ZAR; Moyo, VM; Melo, G; Silva, C; Justica, B; de Sousa, M
      Clinical and genetic heterogeneity in hereditary haemochromatosis: association between lymphocyte counts and expression of iron overload

      EUROPEAN JOURNAL OF HAEMATOLOGY
    26. Igloi, GL
      Simultaneous identification of mutations by dual-parameter multiplex hybridization in peptide nucleic acid-containing virtual arrays

      GENOMICS
    27. Cadet, E; Warin, R; Perez, AS; Rochette, J; Capron, D
      The rusty genotypes

      M S-MEDECINE SCIENCES
    28. Brissot, P
      Hemochromatosis at the intersection of classical medicine and molecular biology

      COMPTES RENDUS DE L ACADEMIE DES SCIENCES SERIE III-SCIENCES DE LA VIE-LIFE SCIENCES
    29. Trombini, P; Mauri, V; Salvioni, A; Corengia, C; Arosio, C; Piperno, A
      S65C frequency in Italian patients with hemochromatosis, porphyria cutaneatarda and chronic viral hepatitis with iron overload

      HAEMATOLOGICA
    30. Kul, I; DesMarteau, DD; Beyerlein, AL
      Vapor-liquid equilibria for CF3OCF2H/fluorinated ethane and CF3SF5/fluorinated ethane mixtures as potential R22 alternatives

      FLUID PHASE EQUILIBRIA
    31. Douabin-Gicquel, V; Soriano, N; Ferran, H; Wojcik, F; Palierne, E; Tamim, S; Jovelin, T; McKie, AT; Le Gall, JY; David, V; Mosser, J
      Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared witha systematic sequencing approach

      HUMAN GENETICS
    32. O'Toole, D; Kelly, EJ; McAllister, MM; Layton, AW; Norrdin, RW; Russell, WC; Saeb-Parsy, K; Walker, AP
      Hepatic failure and hemochromatosis of Salers and Salers-cross cattle

      VETERINARY PATHOLOGY
    33. Day, INM; Gu, DF; Ganderton, RH; Spanakis, E; Ye, S
      Epidemiology and the genetic basis of disease

      INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
    34. Cardoso, C; Porto, G; Lacerda, R; Resende, D; Rodrigues, P; Bravo, F; Oliveira, JC; Justica, B; de Sousa, M
      T-cell receptor repertoire in hereditary hemochromatosis: A study of 32 hemochromatosis patients and 274 healthy subjects

      HUMAN IMMUNOLOGY
    35. Kng, C; Ng, FH; Ng, WF; Wong, BCY; Grosso, LE; Brunt, EM; Bacon, BR
      A Chinese patient with non-HFE-linked iron overload

      JOURNAL OF CLINICAL GASTROENTEROLOGY
    36. Bosserhoff, AK; Hellerbrand, C; Buettner, R
      Clinical and genetic aspects of hereditary hemochromatosis

      PATHOLOGE
    37. Cassanelli, S; Pignatti, E; Montosi, G; Garuti, C; Mariano, M; Campioli, D; Carbonieri, A; Baldini, E; Pietrangelo, A
      Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy

      JOURNAL OF HEPATOLOGY
    38. Vergani, C; Sampietro, M; Caputo, L; Tagliabue, J; Casatta, A; Meregalli, M; Pellegatti, A; Annoni, G
      Cognitive disorders in the elderly. Genetic and epigenetic aspects

      ARCHIVES OF GERONTOLOGY AND GERIATRICS
    39. Feeney, GP; Worwood, M
      The effects of wild-type and mutant HFE expression upon cellular iron uptake in transfected human embryonic kidney cells

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
    40. Roughead, ZK; Finley, JW
      Mucosal uptake and whole-body retention of dietary manganese are not altered in beta(2)-microglobulin knockout mice

      BIOLOGICAL TRACE ELEMENT RESEARCH
    41. Ellervik, C; Mandrup-Poulsen, T; Nordestgaard, BG; Larsen, LE; Appleyard, M; Frandsen, M; Petersen, P; Schlichting, P; Saermark, T; Tybjaerg-Hansen, A; Birgens, H
      Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study

      LANCET
    42. Campo, S; Restuccia, T; Villari, D; Raffa, G; Cucinotta, D; Squadrito, G; Pollicino, T; Raimondo, G
      Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin

      LIVER
    43. Hanson, EH; Shue, PM; Palm-Leis, A; Rowley, RK
      An aviator with cardiomyopathy and genetic susceptibility to hereditary hemochromatosis: A case report

      AVIATION SPACE AND ENVIRONMENTAL MEDICINE
    44. Beutler, E; Felitti, V; Gelbart, T; Ho, N
      Genetics of iron storage and hemochromatosis

      DRUG METABOLISM AND DISPOSITION
    45. Ho, GT; Stanley, AJ
      Haemochromatosis: Where are all the patients?

      SCOTTISH MEDICAL JOURNAL
    46. Halme, L; Melio, T; Makinen, J; Hockerstedt, K; Farkkila, M; Piippo, K; Krusius, T; Kontula, K
      HFE haemochromatosis gene mutations in liver transplant patients

      SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
    47. Hellerbrand, C; Bosserhoff, AK; Seegers, S; Lingner, G; Wrede, C; Lock, G; Scholmerich, J; Buttner, R
      Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCR-ELISA technique

      SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
    48. Murray, KF; Kowdley, KV
      Neonatal hemochromatosis

      PEDIATRICS
    49. Grigg, AP; Bhathal, PS
      Compound heterozygosity for haemochromatosis gene mutations and hepatic iron overload in allogeneic bone marrow transplant recipients

      PATHOLOGY
    50. Burke, W; Imperatore, G; Reyes, M
      Iron deficiency and iron overload: effects of diet and genes

      PROCEEDINGS OF THE NUTRITION SOCIETY
    51. West, AP; LLamas, LL; Snow, PM; Benzer, S; Bjorkman, PJ
      Crystal structure of the ectodomain of Methuselah, a Drosophila G protein-coupled receptor associated with extended lifespan

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    52. Nicolas, G; Bennoun, M; Devaux, I; Beaumont, C; Grandchamp, B; Kahn, A; Vaulont, S
      Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    53. Roman, R; Colomer, A; Erill, N; Puig, X; Guix, M
      Importance of 5569G/A polymorphism in intron 4 of HFE gene in the diagnosis of hereditary hemochromatosis

      MEDICINA CLINICA
    54. Roa, S; Martin-Oterino, JA; Rodriguez, RE; Garcia-Berrocal, B; Sanchez-Rodriguez, A; Gonzalez-Sarmiento, R
      Analysis of the HFE gene in a large Spanish kindred with hereditary hemochromatosis

      MEDICINA CLINICA
    55. Vautier, G; Murray, M; Olynyk, JK
      Hereditary haemochromatosis: detection and management

      MEDICAL JOURNAL OF AUSTRALIA
    56. Knutson, MD; Levy, JE; Andrews, NC; Wessling-Resnick, M
      Expression of stimulator of Fe transport is not enhanced in Hfe knockout mice

      JOURNAL OF NUTRITION
    57. West, AP; Giannetti, AM; Herr, AB; Bennett, MJ; Nangiana, JS; Pierce, JR; Weiner, LP; Snow, PM; Bjorkman, PJ
      Mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites

      JOURNAL OF MOLECULAR BIOLOGY
    58. Kelly, AL; Lunt, PW; Rodrigues, F; Berry, PJ; Flynn, DM; McKiernan, PJ; Kelly, DA; Mieli-Vergani, G; Cox, TM
      Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in ironmetabolism

      JOURNAL OF MEDICAL GENETICS
    59. Mura, C; Le Gac, G; Scotet, V; Raguenes, O; Mercier, AY; Ferec, C
      Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs

      JOURNAL OF MEDICAL GENETICS
    60. Montosi, G; Donovan, A; Totaro, A; Garuti, C; Pignatti, E; Cassanelli, S; Trenor, CC; Gasparini, P; Andrews, NC; Pietrangelo, A
      Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene

      JOURNAL OF CLINICAL INVESTIGATION
    61. Zhong, WJ; Lafuse, WP; Zwilling, BS
      Infection with Mycobacterium avium differentially regulates the expressionof iron transport protein mRNA in murine peritoneal macrophages

      INFECTION AND IMMUNITY
    62. Pereira, AC; Mota, GFA; Krieger, JE
      Hemochromatosis gene variants in three different ethnic populations: Effects of admixture for screening programs

      HUMAN BIOLOGY
    63. Aguilar-Martinez, P; Bismuth, M; Picot, MC; Thelcide, C; Pageaux, GP; Blanc, F; Blanc, P; Schved, JF; Larrey, D
      Variable phenotypic presentation of iron overload in H63D homozygotes: aregenetic modifiers the cause?

      GUT
    64. Parkkila, S; Niemela, O; Britton, RS; Fleming, RE; Waheed, A; Bacon, BR; Sly, WS
      Molecular aspects of iron absorption and HFE expression

      GASTROENTEROLOGY
    65. Barisani, D; Parafioriti, A; Armiraglio, E; Meneveri, R; Conte, D
      Duodenal expression of a putative stimulator of Fe transport and transferrin receptor in anemia and hemochromatosis

      GASTROENTEROLOGY
    66. Bacon, BR
      Hemochromatosis: Diagnosis and management

      GASTROENTEROLOGY
    67. Hetet, G; Elbaz, A; Gariepy, J; Nicaud, V; Arveiler, D; Morrison, C; Kee, F; Evans, A; Simon, A; Amarenco, P; Cambien, F; Grandchamp, B
      Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases

      EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
    68. Cardoso, EMP; Hagen, K; de Sousa, M; Hultcrantz, R
      Hepatic damage in C282Y homozygotes relates to low numbers of CD8(+) cellsin the liver lobuli

      EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
    69. Best, LG; Harris, PE; Spriggs, EL
      Hemochromatosis mutations C282Y and H63D in 'cis' phase

      CLINICAL GENETICS
    70. Lyon, E; Frank, EL
      Hereditary hemochromatosis since discovery of the HFE gene

      CLINICAL CHEMISTRY
    71. Rossi, E; Bulsara, MK; Olynyk, JK; Cullen, DJ; Summerville, L; Powell, LW
      Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population

      CLINICAL CHEMISTRY
    72. Tag, CG; Gressner, AM; Weiskirchen, R
      An unusual melting curve profile in LightCycler multiplex genotyping of the hemochromatosis H63D/C282Y gene mutations

      CLINICAL BIOCHEMISTRY
    73. Jackson, HA; Carter, K; Darke, C; Guttridge, MG; Ravine, D; Hutton, RD; Napier, JA; Worwood, M
      HFE mutations, iron deficiency and overload in 10 500 blood donors

      BRITISH JOURNAL OF HAEMATOLOGY
    74. Dereure, O; Aguilar-Martinez, P; Bessis, D; Perney, P; Vallat, C; Guillot, B; Blanc, F; Guilhou, JJ
      HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France

      BRITISH JOURNAL OF DERMATOLOGY
    75. Kawabata, H; Germain, RS; Ikezoe, T; Tong, XJ; Green, EM; Gombart, AF; Koeffler, HP
      Regulation of expression of murine transferrin receptor 2

      BLOOD
    76. Roetto, A; Totaro, A; Piperno, A; Piga, A; Longo, F; Garozzo, G; Cali, A; De Gobbi, M; Gasparini, P; Camaschella, C
      New mutations inactivating transferrin receptor 2 in hemochromatosis type 3

      BLOOD
    77. Chitambar, CR; Wereley, JP
      Iron transport in a lymphoid cell line with the hemochromatosis C282Y mutation

      BLOOD
    78. Worwood, M
      What is the role of genetic testing in diagnosis of haemochromatosis?

      ANNALS OF CLINICAL BIOCHEMISTRY
    79. Bathum, L; Christiansen, L; Nybo, H; Ranberg, KA; Gaist, D; Jeune, B; Petersen, NE; Vaupel, J; Christensen, K
      Association of mutations in the hemochromatosis gene with shorter life expectancy

      ARCHIVES OF INTERNAL MEDICINE
    80. Hanson, EH; Imperatore, G; Burke, W
      HFE gene and hereditary hemochromatosis: A HuGE review

      AMERICAN JOURNAL OF EPIDEMIOLOGY
    81. Beckman, LE; Sjoberg, K; Eriksson, S; Beckman, L
      Haemochromatosis gene mutations in Finns, Swedes and Swedish Saamis

      HUMAN HEREDITY
    82. Parks, SB; Popovich, BW; Press, RD
      Real-time polymerase chain reaction with fluorescent hybridization probes for the detection of prevalent mutations causing common thrombophilic and iron overload phenotypes

      AJCP. American journal of clinical pathology
    83. Griffiths, WJH; Kelly, AL; Smith, SJ; Cox, TM
      Localization of iron transport and regulatory proteins in human cells

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    84. Dubois-Laforgue, D; Larger, E; Timsit, J
      Is diabetes mellitus a sufficient condition to suspect hemochromatosis?

      DIABETES & METABOLISM
    85. Dubois-Laforgue, D; Caillat-Zucman, S; Boitard, C; Timsit, J
      Clinical characteristics of type 2 diabetes in patients with mutations of HFE

      DIABETES & METABOLISM
    86. Del Rey, R; Froilan, C; Comas, C; Villanueva, R; Olveira, A
      Hereditary hemochromatosis associated to low serum ceruloplasmin in patient without HFE gen mutations.

      REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS
    87. Trinder, D; Macey, DJ; Olynyk, JK
      The new iron age (Review)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    88. Burke, W; Imperatore, G; McDonnell, SM; Baron, RC; Khoury, MJ
      Contribution of different HFE genotypes to iron overload disease: a pooledanalysis

      GENETICS IN MEDICINE
    89. Adams, PC
      Nonexpressing homozygotes for C282Y hemochromatosis: Minority or majority of cases?

      MOLECULAR GENETICS AND METABOLISM
    90. Mura, C; Le Gac, G; Raguenes, O; Mercier, AY; Le Guen, A; Ferec, C
      Relation between HFE mutations and mild iron-overload expression

      MOLECULAR GENETICS AND METABOLISM
    91. Guttridge, MG; Carter, K; Worwood, M; Darke, C
      Population screening for hemochromatosis by PCR using sequence-specific primers

      GENETIC TESTING
    92. Jeffrey, GP; Adams, PC
      Pitfalls in the genetic diagnosis of hereditary hemochromatosis

      GENETIC TESTING
    93. Pointon, JJ; Wallace, D; Merryweather-Clarke, AT; Robson, KJH
      Uncommon mutations and polymorphisms in the hemochromatosis gene

      GENETIC TESTING
    94. Lucotte, G; Mercier, G
      Celtic origin of the C282Y mutation of hemochromatosis

      GENETIC TESTING
    95. Sanchez, M; Bruguera, M; Quintero, E; Barrio, Y; Mazzara, R; Rodes, J; Oliva, R
      Hereditary hemochromatosis in Spain

      GENETIC TESTING
    96. Restagno, G; Gomez, AM; Sbaiz, L; De Gobbi, M; Roetto, A; Bertino, E; Fabris, C; Fiorucci, GC; Fortina, P; Camaschella, C
      A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan (TM)technology

      GENETIC TESTING
    97. Phillips, M; Meadows, CA; Huang, MY; Millson, A; Lyon, E
      Simultaneous detection of C282Y and H63D hemochromatosis mutations by dual-color probes

      MOLECULAR DIAGNOSIS
    98. Le Gac, G; Mura, C; Raguenes, O; Mercier, AY; De Braekeleer, M; Ferec, C
      Nramp2 analysis in hemochromatosis probands

      BLOOD CELLS MOLECULES AND DISEASES
    99. Thenie, A; Orhant, M; Gicquel, I; Fergelot, P; Le Gall, JY; David, V; Mosser, J
      The HFE gene undergoes alternate splicing processes

      BLOOD CELLS MOLECULES AND DISEASES
    100. Papanikolaou, G; Politou, M; Terpos, E; Fourlemadis, S; Sakellaropoulos, N; Loukopoulos, D
      Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity

      BLOOD CELLS MOLECULES AND DISEASES


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Documento generato il 10/08/20 alle ore 02:04:32