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La ricerca find articoli where soggetti phrase all words 'BECKWITH-WIEDEMANN SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 446 riferimenti
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    1. Croteau, S; Polychronakos, C; Naumova, AK
      Imprinting defects in mouse embryos: Stochastic errors or polymorphic phenotype?

      GENESIS
    2. Reik, W; Walter, J
      Genomic imprinting: Parental influence on the genome

      NATURE REVIEWS GENETICS
    3. Moore, T
      Genetic conflict, genomic imprinting and establishment of the epigenotype in relation to growth

      REPRODUCTION
    4. Inoue, J; Mitsuya, K; Maegawa, S; Kugoh, H; Kadota, M; Okamura, D; Shinohara, T; Nishihara, S; Takehara, S; Yamauchi, K; Schulz, TC; Oshimura, M
      Construction of 700 human/mouse A9 monochromosomal hybrids and analysis ofimprinted genes on human chromosome 6

      JOURNAL OF HUMAN GENETICS
    5. Yoshioka, H; Shirayoshi, Y; Oshimura, M
      A novel in vitro system for analyzing parental allele-specific histone acetylation in genomic imprinting

      JOURNAL OF HUMAN GENETICS
    6. Erdmann, VA; Barciszewska, MZ; Hochberg, A; de Groot, N; Barciszewski, J
      Regulatory RNAs

      CELLULAR AND MOLECULAR LIFE SCIENCES
    7. Salpekar, A; Huntriss, J; Bolton, V; Monk, M
      The use of amplified cDNA to investigate the expression of seven imprintedgenes in human oocytes and preimplantation embryos

      MOLECULAR HUMAN REPRODUCTION
    8. Khosla, S; Dean, W; Reik, W; Feil, R
      Epigenetic and experimental modifications in early mammalian development: Part II - Culture of preimplantation embryos and its long-term effects on gene expression and phenotype

      HUMAN REPRODUCTION UPDATE
    9. Chopin, D; Gattegno, B; Cappellen, D; Radvanyi, F
      Oncogenes

      PROGRES EN UROLOGIE
    10. DeBaun, MR; Ess, J; Saunders, S
      Simpson Golabi Behmel syndrome: Progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition

      MOLECULAR GENETICS AND METABOLISM
    11. Smith, AC; Squire, JA; Thorner, P; Zielenska, M; Shuman, C; Grant, R; Chitayat, D; Nishikawa, JL; Weksberg, R
      Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    12. Fukuzawa, R; Umezawa, A; Morikawa, Y; Kim, KC; Nagai, T; Hata, JI
      Nesidioblastosis and mixed hamartoma of the liver in Beckwith-Wiedemann syndrome: Case study including analysis of H19 methylation and insulin-like growth factor 2 genotyping and imprinting

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    13. Paulsen, M; Takada, S; Youngson, NA; Benchaib, M; Charlier, C; Segers, K; Georges, M; Ferguson-Smith, AC
      Comparative sequence analysis of the imprinted Dlk1-Gtl2 locus in three mammalian species reveals highly conserved genomic elements and refines comparison with the Igf2-H19 region

      GENOME RESEARCH
    14. Toretsky, JA; Zitomersky, NL; Eskenazi, AE; Voigt, RW; Strauch, ED; Sun, CC; Huber, R; Meltzer, SJ; Schlessinger, D
      Glypican-3 expression in Wilms tumor and hepatoblastoma

      JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
    15. Mann, JR
      Imprinting in the germ line

      STEM CELLS
    16. Cleary, MA; van Raamsdonk, CD; Levorse, J; Zheng, BH; Bradley, A; Tilghman, SM
      Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice

      NATURE GENETICS
    17. Baumer, A; Wiedemann, U; Hergersberg, M; Schinzel, A
      A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicism

      HUMAN MUTATION
    18. Arima, N; Tei, CW
      HTLV-I tax related dysfunction of cell cycle regulators and oncogenesis ofadult T cell leukemia

      LEUKEMIA & LYMPHOMA
    19. Gaston, V; Le Bouc, Y; Soupre, V; Burglen, L; Donadieu, J; Oro, H; Audry, G; Vazquez, MP; Gicquel, C
      Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    20. Bliek, J; Maas, SM; Ruijter, JM; Hennekam, RCM; Alders, M; Westerveld, A; Mannens, MMAM
      Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

      HUMAN MOLECULAR GENETICS
    21. Meguro, M; Mitsuya, K; Nomura, N; Kohda, M; Kashiwagi, A; Nishigaki, R; Yoshioka, H; Nakao, M; Oishi, M; Oshimura, M
      Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes

      HUMAN MOLECULAR GENETICS
    22. Wutz, A; Theussl, HC; Dausman, J; Jaenisch, R; Barlow, DP; Wagner, EF
      Non-imprinted Igf2r expression decreases growth and rescues the Tme mutation in mice

      DEVELOPMENT
    23. Rommel, D; Pirson, Y
      Medullary sponge kidney - part of a congenital syndrome

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    24. Grisaru, S; Rosenblum, ND
      Glypicans and the biology of renal malformations

      PEDIATRIC NEPHROLOGY
    25. Westbury, J; Watkins, M; Ferguson-Smith, AC; Smith, J
      Dynamic temporal and spatial regulation of the cdk inhibitor p57(kip2) during embryo morphogenesis

      MECHANISMS OF DEVELOPMENT
    26. Kohda, M; Hoshiya, H; Katoh, M; Tanaka, I; Masuda, R; Takemura, T; Fujiwara, M; Oshimura, M
      Frequent loss of imprinting of IGF2 and MEST in lung adenocarcinoma

      MOLECULAR CARCINOGENESIS
    27. Zwart, R; Sleutels, F; Wutz, A; Schinkel, AH; Barlow, DP
      Bidirectional action of the Igf2r imprint control element on upstream and downstream imprinted genes

      GENES & DEVELOPMENT
    28. Kim, J; Bergmann, A; Wehri, E; Lu, XC; Stubbs, L
      Imprinting and evolution of two Kruppel-type zinc-finger genes, ZIM3 and ZNF264, located in the PEG3/USP29 imprinted domain

      GENOMICS
    29. Chamberlain, SJ; Brannan, CI
      The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a

      GENOMICS
    30. Naumova, AK; Greenwood, CMT; Morgan, K
      Imprinting and deviation from Mendelian transmission ratios

      GENOME
    31. Barzon, L; Chilosi, M; Fallo, F; Martignoni, G; Montagna, L; Palu, G; Boscaro, M
      Molecular analysis of CDKN1C and TP53 in sporadic adrenal tumors

      EUROPEAN JOURNAL OF ENDOCRINOLOGY
    32. Meissner, T; Rabl, W; Mohnike, K; Scholl, S; Santer, R; Mayatepek, E
      Hyperinsulinism in syndromal disorders

      ACTA PAEDIATRICA
    33. Schofield, PN; Joyce, JA; Lam, WK; Grandjean, V; Ferguson-Smith, A; Reik, W; Maher, ER
      Genomic imprinting and cancer; new paradigms in the genetics of neoplasia

      TOXICOLOGY LETTERS
    34. Gringras, P; Chen, W
      Mechanisms for differences in monozygous twins

      EARLY HUMAN DEVELOPMENT
    35. Kjellman, M; Larsson, C; Backdahl, M
      Genetic background of adrenocortical tumor development

      WORLD JOURNAL OF SURGERY
    36. Nagahama, H; Hatakeyama, S; Nakayama, K; Nagata, M; Tomita, K; Nakayama, K
      Spatial and temporal expression patterns of the cyclin-dependent kinase (CDK) inhibitors p27(Kip1) and p57(Kip2) during mouse development

      ANATOMY AND EMBRYOLOGY
    37. Paradinas, FJ; Sebire, NJ; Fisher, RA; Rees, HC; Foskett, M; Seckl, MJ; Newlands, ES
      Pseudo-partial moles: placental stem vessel hydrops and the association with Beckwith-Wiedemann syndrome and complete moles

      HISTOPATHOLOGY
    38. Erdmann, VA; Barciszewska, MZ; Szymanski, M; Hochberg, A; de Groot, N; Barciszewski, J
      The non-coding RNAs as riboregulators

      NUCLEIC ACIDS RESEARCH
    39. Genest, DR
      Partial hydatidiform mole: Clinicopathological features, differential diagnosis, ploidy and molecular studies, and gold standards for diagnosis

      INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY
    40. Collins, T; Stone, JR; Williams, AJ
      All in the family: the BTB/POZ, KRAB, and SCAN domains

      MOLECULAR AND CELLULAR BIOLOGY
    41. Benzacken, B; Monier-Gavelle, F; Siffroi, JP; Agbo, P; Chalvon, A; Wolf, JP
      Acrocentric chromosome polymorphisms: beware of cryptic translocations

      PRENATAL DIAGNOSIS
    42. Momtchilova, M; Pelosse, B; Laroche, L; Vazquez, MP
      The Wiedemann-Beckwith syndrome and a congenital cataract

      JOURNAL FRANCAIS D OPHTALMOLOGIE
    43. Reik, W; Dean, W
      DNA methylation and mammalian epigenetics

      ELECTROPHORESIS
    44. Mainprize, TG; Taylor, MD; Rutka, JT; Dirks, PB
      Cip/Kip cell-cycle inhibitors: A neuro-oncological perspective

      JOURNAL OF NEURO-ONCOLOGY
    45. Robbins, J
      KCNQ potassium channels: physiology, pathophysiology, and pharmacology

      PHARMACOLOGY & THERAPEUTICS
    46. Barr, CL; Best, L; Weksberg, R
      Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    47. Li, M; Shuman, C; Fei, YL; Cutiongco, E; Bender, HA; Stevens, C; Wilkins-Haug, L; Day-Salvatore, D; Yong, SL; Geraghty, MT; Squire, J; Weksberg, R
      GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    48. Opitz, JM; Utkus, A
      Comments on biological asymmetry

      AMERICAN JOURNAL OF MEDICAL GENETICS
    49. Jonas, RE; Kimonis, VE
      Chest wall hamartoma with Wiedemann-Beckwith syndrome: Clinical report andbrief review of chromosome 11p15.5-related tumors

      AMERICAN JOURNAL OF MEDICAL GENETICS
    50. Castrillon, DH; Sun, DQ; Weremowicz, S; Fisher, RA; Crum, CP; Genest, DR
      Discrimination of complete hydatidiform mole from its mimics by immunohistochemistry of the paternally imprinted gene product p57(KIP2)

      AMERICAN JOURNAL OF SURGICAL PATHOLOGY
    51. McNeil, DE; Brown, M; Ching, A; DeBaun, MR
      Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: A cost-effective model

      MEDICAL AND PEDIATRIC ONCOLOGY
    52. Hamada, H; Fujiki, Y; Obata-Yasuoka, M; Watanabe, H; Yamada, N; Kubo, T
      Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in association with a single umbilical artery

      JOURNAL OF CLINICAL ULTRASOUND
    53. Ferguson-Smith, AC; Surani, MA
      Imprinting and the epigenetic asymmetry between parental genomes

      SCIENCE
    54. Tanaka, K; Shiota, G; Meguro, M; Mitsuya, K; Oshimura, M; Kawasaki, H
      Loss of imprinting of long QT intronic transcript 1 in colorectal cancer

      ONCOLOGY
    55. Nakagawa, H; Chadwick, RB; Peltomaki, P; Plass, C; Nakamura, Y; de la Chapelle, A
      Loss of imprinting of the insulin-like growth factor II gene occurs by biallelic methylation in a core region of H19-associated CTCF-binding sites incolorectal cancer

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    56. Paulsen, M; Ferguson-Smith, AC
      DNA methylation in genomic imprinting, development, and disease

      JOURNAL OF PATHOLOGY
    57. Costello, JF; Plass, C
      Methylation matters

      JOURNAL OF MEDICAL GENETICS
    58. Thomas, M; Popnikolov, NK; Scott, C; Smith, JR; Hornsby, PJ
      Contrasting roles of p57(KIP2) and p21(WAF1/CIP1/SDI1) transplanted human and bovine adrenocortical cells

      EXPERIMENTAL CELL RESEARCH
    59. Lee, SB; Haber, DA
      Wilms tumor and the WT1 gene

      EXPERIMENTAL CELL RESEARCH
    60. John, RM; Aparicio, SAJR; Ainscough, JFX; Arney, KL; Khosla, S; Hawker, K; Hilton, KJ; Barton, SC; Surani, MA
      Imprinted expression of Neuronatin from modified BAC transgenes reveals regulation by distinct and distant enhancers

      DEVELOPMENTAL BIOLOGY
    61. Hanel, ML; Wevrick, R
      The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome

      CLINICAL GENETICS
    62. Rush, LJ; Dai, ZY; Smiraglia, DJ; Gao, X; Wright, FA; Fruhwald, M; Costello, JF; Held, WA; Yu, L; Krahe, R; Kolitz, JE; Bloomfield, CD; Caligiuri, MA; Plass, C
      Novel methylation targets in de novo acute myeloid leukemia with prevalence of chromosome 11 loci

      BLOOD
    63. Khosla, S; Dean, W; Brown, D; Reik, W; Feil, R
      Culture of preimplantation mouse embryos affects fetal development and theexpression of imprinted genes

      BIOLOGY OF REPRODUCTION
    64. McCann, JA; Zheng, H; Islam, A; Goodyer, CG; Polychronakos, C
      Evidence against GRB10 as the gene responsible for Silver-Russell syndrome

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    65. Sakatani, T; Wei, M; Katoh, M; Okita, C; Wada, D; Mitsuya, K; Meguro, M; Ikeguchi, M; Ito, H; Tycko, B; Oshimura, M
      Epigenetic heterogeneity at imprinted loci in normal populations

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    66. Gerard-Blanluet, M; Elbez, A; Bazin, A; Danan, C; Verloes, A; Janaud, JC
      Mosaic trisomy 15 and hemihypertrophy

      ANNALES DE GENETIQUE
    67. Hotokezaka, H; Matsuo, T; Nakagawa, M; Mizuno, A; Kobayashi, K
      Severe dental open bite malocclusion with tongue reduction after orthodontic treatment

      ANGLE ORTHODONTIST
    68. Abraham, SC; Wu, TT; Klimstra, DS; Finn, LS; Lee, JH; Yeo, CJ; Cameron, JL; Hruban, RH
      Distinctive molecular genetic alterations in sporadic and familial adenomatous polyposis-associated pancreatoblastomas - Frequent alterations in the APC/beta-catenin pathway and chromosome 11p

      AMERICAN JOURNAL OF PATHOLOGY
    69. Fournet, JC; Mayaud, C; de Lonlay, P; Gross-Morand, MS; Verkarre, V; Castanet, M; Devillers, M; Rahier, J; Brunelle, F; Robert, JJ; Nihoul-Fekete, C; Saudubray, JM; Junien, C
      Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism - Association with a reduction to hamozygosity of a mutation in ABCC8 or KCNJ11

      AMERICAN JOURNAL OF PATHOLOGY
    70. Ravenel, JD; Broman, KW; Perlman, EJ; Niemitz, EL; Jayawardena, TM; Bell, DW; Haber, DA; Uejima, H; Feinberg, AP
      Loss of imprinting of insulin-like growth factor-II (IGF2) gene in distinguishing specific biologic subtypes of Wilms tumor

      JOURNAL OF THE NATIONAL CANCER INSTITUTE
    71. Higashimoto, K; Soejima, H; Yatsuki, H; Katsuki, T; Mukai, T
      An NsiI RFLP in the human long QT intronic transcript 1 (LIT1)

      JOURNAL OF HUMAN GENETICS
    72. Takahashi, K; Kobayashi, T; Kanayama, N
      p57(Kip2) regulates the proper development of labyrinthine and spongiotrophoblasts

      MOLECULAR HUMAN REPRODUCTION
    73. Ohyama, M; Kojyo, T; Gotoda, H; Sato, T; Ijiri, R; Tanaka, Y
      Mesenchymal dysplasia of the placenta

      PATHOLOGY INTERNATIONAL

    74. Oncogenetics

      PROGRES EN UROLOGIE
    75. Goldman, LJ; Nodal, C; Jimenez, E
      Successful airway control with the laryngeal mask in an infant with Beckwith-Wiedemann syndrome and hepatoblastoma for central line catheterization

      PAEDIATRIC ANAESTHESIA
    76. LuValle, P; Beier, F
      Cell cycle control in growth plate chondrocytes

      FRONTIERS IN BIOSCIENCE
    77. Kim, J; Noskov, VN; Li, XC; Bergmann, A; Ren, XJ; Warth, T; Richardson, P; Kouprina, N; Stubbs, L
      Discovery of a novel, paternally expressed ubiquitin-specific processing protease gene through comparative analysis of an imprinted region of mouse chromosome 7 and human chromosome 19q13.4

      GENOME RESEARCH
    78. Onyango, P; Miller, W; Lehoczky, J; Leung, CT; Birren, B; Wheelan, S; Dewar, K; Feinberg, AP
      Sequence and comparative analysis of the mouse 1-megabase region orthologous to the human 11p15 imprinted domain

      GENOME RESEARCH
    79. Lai, SL; Goepfert, H; Gillenwater, AM; Luna, MA; El-Naggar, AK
      Loss of imprinting and genetic alterations of the cyclin-dependent kinase inhibitor p57(KIP2) gene in head and neck squamous cell carcinoma

      CLINICAL CANCER RESEARCH
    80. Constancia, M; Dean, W; Lopes, S; Moore, T; Kelsey, G; Reik, W
      Deletion of a silencer element in lgf2 results in loss of imprinting independent of H19

      NATURE GENETICS
    81. Algar, E; Brickell, S; Deeble, G; Amor, D; Smith, P
      Analysis of CDKN1C in Beckwith Wiedemann Syndrome

      HUMAN MUTATION
    82. Van Borsel, J; Morlion, B; Van Snick, K; Leroy, JS
      Articulation in Beckwith-Wiedemann syndrome: Two case studies

      AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
    83. Moller, MB
      p27 in cell cycle control and cancer

      LEUKEMIA & LYMPHOMA
    84. Herz, D; McLellan, D; Garrels, K; Merguerian, PA
      Pediatric genitourinary tumors

      CURRENT OPINION IN ONCOLOGY
    85. Kitano, Y; Ruchelli, E; Weiner, S; Adzick, NS
      Hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta

      FETAL DIAGNOSIS AND THERAPY
    86. Muller, S; van den Boom, D; Zirkel, D; Koster, H; Berthold, F; Schwab, M; Westphal, M; Zumkeller, W
      Retention of imprinting of the human apoptosis-related gene TSSC3 in humanbrain tumors

      HUMAN MOLECULAR GENETICS
    87. Gardner, RJ; Mackay, DJG; Mungall, AJ; Polychronakos, C; Siebert, R; Shield, JPH; Temple, IK; Robinson, DO
      An imprinted locus associated with transient neonatal diabetes mellitus

      HUMAN MOLECULAR GENETICS
    88. Prawitt, D; Enklaar, T; Klemm, G; Gartner, B; Spangenberg, C; Winterpacht, A; Higgins, M; Pelletier, J; Zabel, B
      Identification and characterization of MTR1, a novel gene with homology tomelastatin (MLSN1) and the trp gene family located in the BWS-WT2 criticalregion on chromosome 11p15.5 and showing allele-specific expression

      HUMAN MOLECULAR GENETICS
    89. Ainscough, JFX; John, RM; Barton, SC; Surani, MA
      A skeletal muscle-specific mouse lgf2 repressor lies 40 kb downstream of the gene

      DEVELOPMENT
    90. O'Neill, MJ; Ingram, RS; Vrana, PB; Tilghman, SM
      Allelic expression of IGF2 in marsupials and birds

      DEVELOPMENT GENES AND EVOLUTION
    91. Furuhashi, M; Oda, H; Nakashima, T
      Hydrops of placental stem villi complicated with fetal congenital adrenal hyperplasia

      ARCHIVES OF GYNECOLOGY AND OBSTETRICS
    92. Alizad, A; Seward, JB
      Echocardiographic features of genetic diseases: Part 1. Cardiomyopathy

      JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
    93. Gicquel, C; Bertherat, J; Le Bouc, Y; Bertagna, X
      Pathogenesis of adrenocortical incidentalomas and genetic syndromes associated with adrenocortical neoplasms

      ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
    94. Stratakis, CA; Chrousos, GP
      Adrenal cancer

      ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
    95. Enklaar, T; Esswein, M; Oswald, M; Hilbert, K; Winterpacht, A; Higgins, M; Zabel, B; Prawitt, D
      Mtr1, a novel biallelically expressed gene in the center of the mouse distal chromosome 7 imprinting cluster, is a member of the Trp gene family

      GENOMICS
    96. Devriendt, K
      Genetic control of intra-uterine growth

      EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY
    97. Gaston, V; Le Bouc, Y; Soupre, V; Vazquez, MP; Gicquel, C
      Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome

      HORMONE RESEARCH
    98. Fournet, JC; Mayaud, C; de Lonlaya, P; Verkarre, V; Rahier, J; Brunelle, F; Robert, JJ; Nihoul-Fekete, C; Saudubray, JM; Junien, C
      Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism

      HORMONE RESEARCH
    99. Sinclair, KD; Young, LE; Wilmut, I; McEvoy, TG
      In-utero overgrowth in ruminants following embryo culture: lessons from mice and a warning to men

      HUMAN REPRODUCTION
    100. Robinson, WP
      Mechanisms leading to uniparental disomy and their clinical consequences

      BIOESSAYS


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Documento generato il 04/06/20 alle ore 21:01:56