検索結果 - Nicole Van Regemorter

  • 検索結果 1 - 6 結果 / 6
結果の絞り込み
  1. 1
    Contribution of three‐dimensional computed tomography in the assessment of fetal skeletal dysplasia

    Contribution of three‐dimensional computed tomography in the assessment of fetal skeletal dysplasia 著者: Marie Cassart, Anne Massez, T. Cos, Laura Tecco, D. A. Thomas, Nicole Van Regemorter, Fred E. Avni

    出版事項 2007
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  2. 2
    Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

    Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy 著者: Julie Désir, Graciela Moya, Orit Reish, Nicole Van Regemorter, H. Deconinck, Karen L. David, Françoise Meire, Marc Abramowicz

    出版事項 2007
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  3. 3
    Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

    Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke 著者: Lydia Murray, Yinhui Lu, Aislynn Taggart, Nicole Van Regemorter, Catheline Vilain, Marc Abramowicz, Karl E. Kadler, Tom Van Agtmael

    出版事項 2013
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  4. 4
    Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

    Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes 著者: Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole Van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luís Nunes, Valérie Meersschaut, Sophie Walraedt, Lieve Standaert, Paul Coucke, Heidi Hoeben, Hester Y. Kroes, Johan Vande Walle, Thomy de Ravel, Bart P. Leroy, Elfride De Baere

    出版事項 2010
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  5. 5
    Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

    Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation 著者: Elfride De Baere, Michael J. Dixon, Kent W. Small, Ethylin Wang Jabs, Bart Leroy, K Devriendt, Y. Gillerot, Geert Mortier, Françoise Meire, Lionel Van Maldergem, Winnie Courtens, Helle Hjalgrim, Shangzhi Huang, I. Liebaers, Nicole Van Regemorter, Philippe Touraine, Verayuth Praphanphoj, Alain Verloès, Nitin Udar, Vivek S. Yellore, Meenal Chalukya, Svetlana Yelchits, Anne De Paepe, Frédérique Kuttenn, Marc Fellous, Reiner A. Veitia, Ludwine Messiaen

    出版事項 2001
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  6. 6
    Mutation Update of the<i>CLCN5</i>Gene Responsible for Dent Disease 1

    Mutation Update of the<i>CLCN5</i>Gene Responsible for Dent Disease 1 著者: Lamisse Mansour‐Hendili, Anne Blanchard, Nelly Le Pottier, Isabelle Roncelin, Stéphane Lourdel, Cyrielle Tréard, Wendy González, Ariela Vergara‐Jaque, Gilles Morin, Estelle Colin, Muriel Holder‐Espinasse, Justine Bacchetta, Véronique Baudouin, Stéphane L. Benoit, E. Bérard, Guylhène Bourdat-Michel, Karim Bouchireb, Stéphane Burtey, Mathilde Cailliez, Gérard Cardon, C. Cartery, Gérard Champion, Dominique Chauveau, Pierre Cochat, Karin Dahan, Renaud de la Faille, François-Guillaume Debray, Laurenne Dehoux, Georges Deschênes, Éstelle Desport, Olivier Devuyst, Stella M. Dieguez, Francesco Emma, Michel Fischbach, Denis Fouque, Jacques Fourcade, Arnaud François, Brigitte Gilbert‐Dussardier, Thierry Hannedouche, Pascal Houillier, Hassan Izzedine, Marco Janner, Alexandre Karras, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Valériane Leroy, Chantal Loirat, Marie-Alice Macher, Dominique Martin–Coignard, Denis Morin, Patrick Niaudet, Hubert Nivet, François Nobili, Robert Novo, Laurence Faivre, Claire Rigothier, Gwénaëlle Roussey-Kesler, Rémi Salomon, Andreas Schleich, A.L. Sellier-Leclerc, Kenza Soulami, A. Tiple, Tim Ulinski, Philippe Vanhille, Nicole Van Regemorter, Xavier Jeunemaı̂tre, Rosa Vargas‐Poussou

    出版事項 2015
    全文の入手
    Revisão
    お気に入りに追加
    保存先:

検索ツール: