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La ricerca find articoli where authors phrase all words ' van der Burgt, I' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 10 riferimenti
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    1. Tartaglia, M; Mehler, EL; Goldberg, R; Zampino, G; Brunner, HG; Kremer, H; van der Burgt, I; Crosby, AH; Ion, A; Jeffery, S; Kalidas, K; Patton, MA; Kucherlapati, RS; Gelb, BD
      Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

      NATURE GENETICS
    2. Tartaglia, M; Mehler, EL; Goldberg, R; Zampino, G; Brunner, HG; Kremer, H; van der Burgt, I; Crosby, AH; Ion, A; Jeffery, S; Kalidas, K; Patton, MA; Kucherlapati, RS; Gelb, B
      Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan Syndrome (vol 29, pg 465, 2001)

      NATURE GENETICS
    3. van der Wall, G; Otten, BJ; Brunner, HG; van der Burgt, I
      3-M syndrome: description of six new patients with review of the literature

      CLINICAL DYSMORPHOLOGY
    4. Noordam, C; van der Burgt, I; Sengers, RCA; Delemarre-van de Waal, HA; Otten, BJ
      Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial

      ACTA PAEDIATRICA
    5. Noordam, C; van der Burgt, I; Sweep, CGJ; Delemarre-van de Waal, HA; Sengers, RCA; Otten, BJ
      Growth hormone (GH) secretion in children with Noonan syndrome: frequentlyabnormal without consequences for growth or response to GH treatment

      CLINICAL ENDOCRINOLOGY
    6. van der Burgt, I; Brunner, H
      Genetic heterogeneity in Noonan syndrome: Evidence for an autosomal recessive form

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Ion, A; Crosby, AH; Kremer, H; Kenmochi, N; Van Reen, M; Fenske, C; Van der Burgt, I; Brunner, HG; Montgomery, K; Kucherlapati, RS; Patton, MA; Page, DC; Mariman, E; Jeffery, S
      Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6

      JOURNAL OF MEDICAL GENETICS
    8. Hiel, JA; Weemaes, CM; van den Heuvel, LP; van Engelen, BG; Gabreels, FJ; Smeets, DF; van der Burgt, I; Chrzanovska, KH; Bernatowska, E; Krajewska-Walasek, M; Bialecka, M; Abramczuk, D; Gregorek, H; Michalkiewicz, I; Perek, D; Midro, AT; Seemanova, E; Belohradsky, BH; Solder, B; Barbi, G; Wegner, RD; Sperling, K; Dixon, J; Maraschio, P; Marseglia, GL; Green, A; Taylor, AM; Der Kaloustian, VM; Komatsu, K; Matsuura, S; Conley, ME; Concannon, P; Gatti, RA
      Nijmegen breakage syndrome

      ARCHIVES OF DISEASE IN CHILDHOOD
    9. Yntema, HG; van den Helm, B; Knoers, NVAM; Smits, APT; van Roosmalen, T; Smeets, DFCM; Mariman, ECM; van der Burgt, I; van Bokhoven, H; Ropers, HH; Kremer, H; Hamel, BCJ
      X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. van der Burgt, I; Thoonen, G; Roosenboom, N; Assman-Hulsmans, C; Gabreels, F; Otten, B; Brunner, HG
      Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression

      JOURNAL OF PEDIATRICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 21:15:46