Catalogo Articoli (Spogli Riviste)

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La ricerca find articoli where authors phrase all words 'Clayton-Smith, J' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 13 riferimenti
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    1. Elanko, N; Sibbring, JS; Metcalfe, KA; Clayton-Smith, J; Donnai, D; Temple, IK; Wall, SA; Wilkie, AOM
      A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

      HUMAN MUTATION
    2. Stewart, H; Smith, PT; Gaunt, L; Moore, L; Tarpey, P; Andrew, S; Dady, I; Rifkin, R; Clayton-Smith, J
      De novo deletion of chromosome 18q in a baby with harlequin ichthyosis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    3. Watson, P; Black, G; Ramsden, S; Barrow, M; Super, M; Kerr, B; Clayton-Smith, J
      Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

      JOURNAL OF MEDICAL GENETICS
    4. Clayton-Smith, J
      Angelman syndrome: evolution of the phenotype in adolescents and adults

      DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
    5. Donnai, D; Kerzin-Storrar, L; Craufurd, D; Evans, G; Clayton-Smith, J; Kingston, H
      Tensions in implementing the new genetics - Genetic counsellors could be based in genetic centres but be formally linked to general practices

      BRITISH MEDICAL JOURNAL
    6. McGaughran, JM; Donnai, D; Clayton-Smith, J
      Biliary atresia in Kabuki syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Perveen, R; Lloyd, IC; Clayton-Smith, J; Churchill, A; van Heyningen, V; Hanson, I; Taylor, D; McKeown, C; Super, M; Kerr, B; Winter, R; Black, GCM
      Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    8. Clayton-Smith, J; Watson, P; Ramsden, S; Black, GCM
      Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

      LANCET
    9. Black, GCM; Perveen, R; Bonshek, R; Cahill, M; Clayton-Smith, J; Lloyd, IC; McLeod, D
      Coats' disease of the retina (unilateral retinal telangiectasis) caused bysomatic mutation in the NDP gene: a role for norrin in retinal angiogenesis

      HUMAN MOLECULAR GENETICS
    10. Slavotinek, A; Clayton-Smith, J
      A girl with ectodermal dysplasia, choanal atresia and polysyndactyly

      CLINICAL DYSMORPHOLOGY
    11. Slavotinek, A; Clayton-Smith, J
      Brachydactyly type B: case report and further evidence for clinical heterogeneity

      CLINICAL DYSMORPHOLOGY
    12. Slavotinek, A; Clayton-Smith, J; Kerr, B
      Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus

      CLINICAL DYSMORPHOLOGY
    13. Slavotinek, A; Rosenberg, M; Knight, S; Gaunt, L; Fergusson, W; Killoran, C; Clayton-Smith, J; Kingston, H; Campbell, RHA; Flint, J; Donnai, D; Biesecker, L
      Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosometelomeres

      JOURNAL OF MEDICAL GENETICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/02/20 alle ore 05:25:15