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La ricerca find articoli where authors phrase all words ' Gillessen-Kaesbach, G' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 23 riferimenti
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    1. Runte, M; Farber, C; Lich, C; Zeschnigk, M; Buchholz, T; Smith, A; Van Maldergem, L; Burger, J; Muscatelli, F; Gillessen-Kaesbach, G; Horsthemke, B; Buiting, K
      Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

      EUROPEAN JOURNAL OF HUMAN GENETICS
    2. 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
    3. Hauffa, BP; Schlippe, G; Gillessen-Kaesbach, G
      Adiposity indices in German children and adolescents with genetically confirmed Prader-Willi syndrome (PWS)

      INTERNATIONAL JOURNAL OF OBESITY
    4. Zhu, G; Gillessen-Kaesbach, G; Wirth, J; Passarge, E; Bartsch, O
      Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Ludecke, HJ; Schaper, J; Meinecke, P; Momeni, P; Gross, S; von Holtum, D; Hirche, H; Abramowicz, MJ; Albrecht, B; Apacik, C; Christen, HJ; Claussen, U; Devriendt, K; Fastnacht, E; Forderer, A; Friedrich, U; Goodship, THJ; Greiwe, M; Hamm, H; Hennekam, RCM; Hinkel, GK; Hoeltzenbein, M; Kayserili, H; Majewski, F; Mathieu, M; McLeod, R; Midro, AT; Moog, U; Nagai, T; Niikawa, N; Orstavik, KH; Plochl, E; Seitz, C; Schmidtke, J; Tranebjaerg, L; Tsukahara, M; Wittwer, B; Zabel, B; Gillessen-Kaesbach, G; Horsthemke, B
      Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III

      AMERICAN JOURNAL OF HUMAN GENETICS
    6. Partsch, CJ; Lammer, C; Gillessen-Kaesbach, G; Pankau, R
      Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion

      GROWTH HORMONE & IGF RESEARCH
    7. Momeni, P; Glockner, G; Schmidt, O; von Holtum, D; Albrecht, B; Gillessen-Kaesbach, G; Hennekam, R; Meinecke, P; Zabel, B; Rosenthal, A; Horsthemke, B; Ludecke, HJ
      Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

      NATURE GENETICS
    8. Wieczorek, D; Krause, M; Majewski, F; Albrecht, B; Horn, D; Riess, O; Gillessen-Kaesbach, G
      Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

      EUROPEAN JOURNAL OF HUMAN GENETICS
    9. Gillessen-Kaesbach, G; Horsthemke, B
      Phenotype in patients with Angelman syndrome - Reply

      EUROPEAN JOURNAL OF HUMAN GENETICS
    10. Schwartz, CE; Gillessen-Kaesbach, G; May, M; Cappa, M; Gorski, J; Steindl, K; Neri, G
      Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    11. Lohmann, DR; Gillessen-Kaesbach, G
      Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome

      CLINICAL DYSMORPHOLOGY
    12. Hauffa, BP; Schlippe, G; Roos, M; Gillessen-Kaesbach, G; Gasser, T
      Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome

      ACTA PAEDIATRICA
    13. Ramsing, M; Gillessen-Kaesbach, G; Holzgreve, W; Fritz, B; Rehder, H
      Variability in the phenotypic expression of Fryns syndrome: A report of two sibships

      AMERICAN JOURNAL OF MEDICAL GENETICS
    14. Gohlich-Ratmann, G; Lackner, A; Schaper, J; Voit, T; Gillessen-Kaesbach, G
      Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. Kuschel, B; Gillessen-Kaesbach, G
      Trisomy 13 with bilateral hand oligodactyly

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. Wieczorek, D; Krause, M; Majewski, F; Albrecht, B; Meinecke, P; Riess, O; Gillessen-Kaesbach, G
      Unexpected high frequency of de novo unbalanced translocations in patientswith Wolf-Hirschhorn syndrome (WHS)

      JOURNAL OF MEDICAL GENETICS
    17. Schwabe, GC; Tinschert, S; Buschow, C; Meinecke, P; Wolff, G; Gillessen-Kaesbach, G; Oldridge, M; Wilkie, AOM; Komec, R; Mundlos, S
      Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B

      AMERICAN JOURNAL OF HUMAN GENETICS
    18. Witsch-Baumgartner, M; Fitzky, BU; Ogorelkova, M; Kraft, HG; Moebius, FF; Glossmann, H; Seedorf, U; Gillessen-Kaesbach, G; Hoffmann, GF; Clayton, P; Kelley, RI; Utermann, G
      Mutational spectrum in the Delta 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    19. Wallis, DE; Roessler, E; Hehr, U; Nanni, L; Wiltshire, T; Richieri-Costa, A; Gillessen-Kaesbach, G; Zackai, EH; Rommens, J; Muenke, M
      Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

      NATURE GENETICS
    20. Gillessen-Kaesbach, G; Demuth, S; Thiele, H; Theile, U; Lich, C; Horsthemke, B
      A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

      EUROPEAN JOURNAL OF HUMAN GENETICS
    21. Kalff-Suske, M; Wild, A; Topp, J; Wessling, M; Jacobsen, EM; Bornholdt, D; Engel, H; Heuer, H; Aalfs, CM; Ausems, MGEM; Barone, R; Herzog, A; Heutink, P; Homfray, T; Gillessen-Kaesbach, G; Konig, R; Kunze, J; Meinecke, P; Muller, D; Rizzo, R; Strenge, S; Superti-Furga, A; Grzeschik, KH
      Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome

      HUMAN MOLECULAR GENETICS
    22. Roll, C; Hanssler, L; Voit, T; Gillessen-Kaesbach, G
      Aplasia cutis congenita - etiological relationship to antiphospholipid syndrome?

      CLINICAL DYSMORPHOLOGY
    23. Voit, T; Abe, T; Antunes, NL; Aso, K; Beck, M; Becker, LE; Berthet, F; Bourgeois, B; Braddick, O; Cioni, G; Cowan, F; DiFazio, MP; DiMauro, S; Dodge, N; Enders, G; Forsting, N; Frahm, J; Futagi, Y; Gabreels-Festen, A; Gartner, J; Gillessen-Kaesbach, G; Golden, J; Greisen, G; Guichenai, P; Hagberg, B; Heinen, F; Hohlfeld, R; Holmes, GL; Inoue, Y; Iwamoto, H; Jaeken, J; Kaufmann, W; Kimura, H; Kohyama, J; Korinthenberg, R; Kramer, H; Kreth, W; Krivit, W; Logan, W; Lorenz, B; Lou, H; Martin, JJ; Matshushima, Y; Munnich, A; Naidu, S; Neubauer, W; Oguni, H; Oka, E; Osawa, M; Panayiotopoulos, CP; Partridge, T; Raemaekers, V; Rapin, I; Reis, A; Rivkin, M; Roll, C; Rosenbaum, T; Ross, E; Rotteveel, J; Schroder, JM; Seitz, R; Soul, J; Steinlein, O; Stephani, U; Tanaka, J; Taylor, G; Tome, F; Topcu, N; Tuxhorn, I; Urlesberger, B; Wahn, V; Wenk, G; Wilichowski, E; Wraith, JE; Wynshaw-Boris, A
      Pediatric neurology on the threshold of a new millenium

      NEUROPEDIATRICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 00:34:19