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La ricerca find articoli where authors phrase all words 'Whittock, NV' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 14 riferimenti
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    1. Hunt, DM; Rickman, L; Whittock, NV; Eady, RA; Simrak, D; Dopping-Hepenstal, PJC; Stevens, HP; Armstrong, DKB; Hennies, HC; Kuster, W; Hughes, AE; Arnemann, J; Leigh, IM; McGrath, JA; Kelsell, DP; Buxton, RS
      Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

      EUROPEAN JOURNAL OF HUMAN GENETICS
    2. Bleck, O; Ashton, GHS; Mallipeddi, R; South, AP; Whittock, NV; McLean, WHI; Atherton, DJ; McGrath, JA
      Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in differentclinical variants of acrodermatitis enteropathica

      ARCHIVES OF DERMATOLOGICAL RESEARCH
    3. Whittock, NV; Ashton, GHS; Griffiths, WAD; Eady, RAJ; McGrath, JA
      New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

      BRITISH JOURNAL OF DERMATOLOGY
    4. Whittock, NV; McLean, WHI
      Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    5. Whittock, NV; Eady, RAJ; McGrath, JA
      Genomic organization and amplification of the human plakoglobin gene (JUP)

      EXPERIMENTAL DERMATOLOGY
    6. Thornhill, AR; Pickering, SJ; Whittock, NV; Caller, J; Andritsos, V; Bickerstaff, HE; Handyside, AH; Eady, RAJ; Braude, PR; McGrath, JA
      Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report

      PRENATAL DIAGNOSIS
    7. Whittock, NV; Coleman, CM; McLean, WH; Ashton, GHS; Acland, KM; Eady, RAJ; McGrath, JA
      The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    8. Whittock, NV; Haftek, M; Angoulvant, N; Wolf, F; Perrot, H; Eady, RAJ; McGrath, JA
      Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    9. Whittock, NV; Hunt, DM; Rickman, L; Malhi, S; Vogazianou, AP; Dawson, LF; Eady, RAJ; Buxton, RS; McGrath, JA
      Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    10. Whittock, NV; Eady, RAJ; McGrath, JA
      Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    11. Whittock, NV; Eady, RAJ; McGrath, JA
      Genomic organization and amplification of the human keratin 15 and keratin19 genes

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    12. Whittock, NV; Ashton, GHS; Dopping-Hepenstal, PJC; Gratian, MJ; Keane, FM; Eady, RAJ; McGrath, JA
      Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    13. Whittock, NV; Ashton, GHS; Mohammedi, R; Mellerio, JE; Mathew, CG; Abbs, SJ; Eady, RAJ; McGrath, JA
      Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    14. WHITTOCK NV; MATHEW C; MCGRATH JA; EADY RAJ; MELLERIO JE; ABBS S
      TYPE-VII COLLAGEN GENE (COL7A1) MUTATION SCREENING IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA USING THE PROTEIN TRUNCATION TEST

      Journal of investigative dermatology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/08/20 alle ore 03:06:43