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La ricerca find articoli where authors phrase all words ' Krajewska-Walasek, M' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 12 riferimenti
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    1. Giannakudis, J; Ropke, A; Kujat, A; Krajewska-Walasek, M; Hughes, H; Fryns, JP; Bankier, A; Amor, D; Schlicker, M; Hansmann, I
      Parental mosaicism of JAG1 mutations in families with Alagille syndrome (vol 9, pg 209, 2001)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    2. Giannakudis, J; Ropke, A; Kujat, A; Krajewska-Walasek, M; Hughes, H; Fryns, JP; Bankier, A; Amor, D; Schlicker, M; Hansmann, I
      Parental mosaicism of JAG1 mutations in families with Alagille syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    3. Witsch-Raumgartner, M; Ciara, E; Loffler, J; Menzel, HJ; Seedorf, U; Burn, J; Gillessen-Kaesbach, G; Hoffmann, GF; Fitzy, BU; Mundy, H; Clayton, P; Kelley, RI; Krajewska-Walasek, M; Utermann, G
      Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Stankiewicz, P; Rujner, J; Loffler, C; Kruger, A; Nimmakayalu, M; Pilacik, B; Krajewska-Walasek, M; Gutkowska, A; Hansmann, I; Giannakudis, I
      Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Bielinska, B; Blaydes, SM; Buiting, K; Yang, T; Krajewska-Walasek, M; Horsthemke, B; Brannan, CI
      De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

      NATURE GENETICS
    6. Varon, R; Seemanova, E; Chrzanowska, K; Hnateyko, O; Piekutowska-Abramczuk, D; Krajewska-Walasek, M; Sykut-Cegielska, J; Sperling, K; Reis, A
      Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations

      EUROPEAN JOURNAL OF HUMAN GENETICS
    7. Kotzot, D; Balmer, D; Baumer, A; Chrzanowska, K; Hamel, BCJ; Ilyina, H; Krajewska-Walasek, M; Lurie, IW; Otten, BJ; Schoenle, E; Tariverdian, G; Schinzel, A
      Maternal uniparental disomy 7 - review and further delineation of the phenotype

      EUROPEAN JOURNAL OF PEDIATRICS
    8. Bekiesinska-Figatowska, M; Chrzanowska, KH; Sikorska, J; Walecki, J; Krajewska-Walasek, M; Jozwiak, S; Kleijer, WJ
      Cranial MRI in the Nijmegen breakage syndrome

      NEURORADIOLOGY
    9. Kotzot, D; Martinez, MJ; Bagci, G; Basaran, S; Baumer, A; Binkert, F; Brecevic, L; Castellan, C; Chrzanowska, K; Dutly, F; Gutkowska, A; Karauzum, SB; Krajewska-Walasek, M; Luleci, G; Miny, P; Riegel, M; Schuffenhauer, S; Seidel, H; Schinzel, A
      Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

      JOURNAL OF MEDICAL GENETICS
    10. 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
    11. Krajewska-Walasek, M; Gradowska, W; Ryzko, J; Socha, P; Chmielik, J; Szaplyko, W; Kasprzyk, J; Gorska, B; Szreter, M; Wolski, J; Rysiewski, H; Malunowicz, EM; Gregorek, H; Michalkiewicz, J; Pietraszek, E; Szaplyko, J
      Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies

      CLINICAL DYSMORPHOLOGY
    12. Ohta, T; Gray, TA; Rogan, PK; Buiting, K; Gabriel, JM; Saitoh, S; Muralidhar, B; Bilienska, B; Krajewska-Walasek, M; Driscoll, DJ; Horsthemke, B; Butler, MG; Nicholls, RD
      Imprinting-mutation mechanisms in Prader-Willi syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 22:08:25