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La ricerca find articoli where soggetti phrase all words 'RECESSIVE CONGENITAL ICHTHYOSIS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 7 riferimenti
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    1. Kere, J
      Human population genetics: Lessons from Finland

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Sprecher, E; Chavanas, S; DiGiovanna, JJ; Amin, S; Nielsen, K; Prendiville, JS; Silverman, R; Esterly, NB; Spraker, MK; Guelig, E; de Luna, ML; Williams, ML; Buehler, B; Siegfried, EC; Van Maldergem, L; Pfendner, E; Bale, SJ; Uitto, J; Hovnanian, A; Richard, G
      The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenataldiagnosis

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    3. Yang, JM; Ahn, KS; Cho, MO; Yoneda, K; Lee, CH; Lee, JH; Lee, ES; Candi, E; Melino, G; Ahvazi, B; Steinert, PM
      Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    4. Akiyama, M; Takizawa, Y; Suzuki, Y; Ishiko, A; Matsuo, I; Shimizu, H
      Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    5. Virolainen, E; Niemi, KM; Ganem, A; Kere, J; Vahlquist, A; Saarialho-Kere, U
      Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma

      BRITISH JOURNAL OF DERMATOLOGY
    6. Yotsumoto, S; Akiyama, M; Yoneda, K; Fukushige, T; Kobayashi, K; Saheki, T; Kanzaki, T
      Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis

      JOURNAL OF DERMATOLOGICAL SCIENCE
    7. Pigg, M; Gedde-Dahl, T; Cox, DW; Haugen, G; Dahl, N
      Haplotype association and mutation analysis of the transglutaminase 1 genefor prenatal exclusion of lamellar ichthyosis

      PRENATAL DIAGNOSIS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/05/20 alle ore 04:01:24