Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'mutation database' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 33 riferimenti
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Cabral, WA; Chernoff, EJ; Marini, JC
      G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha 1(I) chain and alters folding of the N-terminal end of the helix

      MOLECULAR GENETICS AND METABOLISM
    2. Notorangelo, LD; Mella, P; Jones, A; Baisle, GD; Savoldi, G; Cranston, T; Vihinen, M; Schumacher, RF
      Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

      HUMAN MUTATION
    3. McVey, JH; Boswell, E; Mumford, AD; Kemball-Cook, G; Tuddenham, EGD
      Factor VII deficiency and the FVII mutation database

      HUMAN MUTATION
    4. Borggaard, BW; Jorgensen, LGM
      Cancer-related genes

      JOURNAL OF TUMOR MARKER ONCOLOGY
    5. Hendy, GN; D'Souza-Li, L; Yang, B; Canaff, L; Cole, DEC
      Mutations of the calcium-sensing receptor (CASR) in familial hypocalciurichypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominanthypocalcemia

      HUMAN MUTATION
    6. Schollen, E; Dorland, L; de Koning, TJ; Van Diggelen, OP; Huijmans, JGM; Marquardt, T; Babovic-Vuksanovic, D; Patterson, M; Imtiaz, F; Winchester, B; Adamowicz, M; Pronicka, E; Freeze, H; Matthijs, G
      Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

      HUMAN MUTATION
    7. Szabo, C; Masiello, A; Ryan, JF; Brody, LC
      The breast cancer information core: Database design, structure, and scope

      HUMAN MUTATION
    8. Sabbagh, Y; Jones, AO; Tenenhouse, HS
      PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia

      HUMAN MUTATION
    9. den Dunnen, JT; Antonarakis, SE
      Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

      HUMAN MUTATION
    10. Scriver, CR; Nowacki, PM; Lehvaslaiho, H
      Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress

      HUMAN MUTATION
    11. Cotton, RGH; Horaitis, O
      Quality control in the discovery, reporting, and recording of genomic variation

      HUMAN MUTATION
    12. Maurer, SM
      Coping with change: Intellectual property rights, new legislation, and thehuman mutation database initiative

      HUMAN MUTATION
    13. Knoppers, BM; Laberge, CM
      Ethical guideposts for allelic variation databases

      HUMAN MUTATION
    14. Porter, CJ; Talbot, CC; Cuticchia, AJ
      Central mutation databases - A review

      HUMAN MUTATION
    15. Krawczak, M; Ball, EV; Fenton, I; Stenson, PD; Abeysinghe, S; Thomas, N; Cooper, DN
      Human gene mutation database - A biomedical information and research resource

      HUMAN MUTATION
    16. Lehvaslaiho, H; Stupka, E; Ashburner, M
      Sequence variation database project at the European Bioinformatics Institute

      HUMAN MUTATION
    17. Hamosh, A; Scott, AF; Amberger, J; Valle, D; McKusick, VA
      Online Mendelian Inheritance in Man (OMIM)

      HUMAN MUTATION
    18. Cuticchia, AJ
      Future vision of the GDB human genome database

      HUMAN MUTATION
    19. Sherry, ST; Ward, M; Sirotkin, K
      Use of molecular variation in the NCBI dbSNP database

      HUMAN MUTATION
    20. Brown, AF; McKie, MA
      MuStaR (TM) and other software for locus-specific mutation databases

      HUMAN MUTATION
    21. Beroud, C; Collod-Beroud, G; Boileau, C; Soussi, T; Junien, C
      UMD (Universal Mutation Database): A Generic software to build and analyzelocus-specific databases

      HUMAN MUTATION
    22. Minoshima, S; Mitsuyama, S; Ohno, S; Kawamura, T; Shimizu, N
      Eye disorder database "KMeyeDB"

      HUMAN MUTATION
    23. Scriver, CR; Waters, PJ; Sarkissian, C; Ryan, S; Prevost, L; Cote, D; Novak, J; Teebi, S; Nowacki, PM
      PAHdb: A locus-specific knowledgebase

      HUMAN MUTATION
    24. Soussi, T; Dehouche, K; Beroud, C
      p53 website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis

      HUMAN MUTATION
    25. Rashbass, J
      The impact of information technology on histopathology

      HISTOPATHOLOGY
    26. Gaspar, HB; Conley, ME
      Early B cell defects

      CLINICAL AND EXPERIMENTAL IMMUNOLOGY
    27. Lohmann, DR
      RB1 gene mutations in retinoblastoma

      HUMAN MUTATION
    28. Fung, DC; Yu, B; Littlejohn, T; Trent, RJ
      An online locus-specific mutation database for familial hypertrophic cardiomyopathy

      HUMAN MUTATION
    29. Bayston, TA; Tripodi, A; Mannucci, PM; Thompson, E; Ireland, H; Fitches, AC; Hananeia, L; Olds, RJ; Lane, DA
      Familial overexpression of beta antithrombin caused by an Asn135Thr substitution

      BLOOD
    30. Shashikant, CS; Carr, JL; Bhargava, J; Bentley, KL; Ruddle, FH
      Recombinogenic targeting: a new approach to genomic analysis - a review

      GENE
    31. JOCHMANS K; LISSENS W; SENECA S; CAPEL P; CHATELAIN B; MEEUS P; OSSELAER JC; PEERLINCK K; SEGHERS J; SLACMEULDER M; STIBBE J; VANDELOO J; VERMYLEN J; LIEBAERS I; DEWAELE M
      THE MOLECULAR-BASIS OF ANTITHROMBIN DEFICIENCY IN BELGIAN AND DUTCH FAMILIES

      Thrombosis and haemostasis
    32. OLLILA J; LAPPALAINEN I; VIHINEN M
      SEQUENCE SPECIFICITY IN CPG MUTATION HOTSPOTS

      FEBS letters
    33. GREENGARD JS; FISHER CL; VILLOUTREIX B; GRIFFIN JH
      STRUCTURAL BASIS FOR TYPE-I AND TYPE-II DEFICIENCIES OF ANTITHROMBOTIC PLASMA PROTEIN-C - PATTERNS REVEALED BY 3-DIMENSIONAL MOLECULAR MODELING OF MUTATIONS OF THE PROTEASE DOMAIN

      Proteins


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/10/20 alle ore 19:55:04