Хайлтын үр дүнгүүд - Delphine Feldmann

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  1. 1
    <i>NKX2-1</i>mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain-Lung-Thyroid Syndrome”

    <i>NKX2-1</i>mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain-Lung-Thyroid Syndrome” -н Loïc Guillot, Aurore Carré, Gabor Szinnai, Mireille Castanet, Elodie Tron, Francis Jaubert, Isabelle Broutin, François Counil, Delphine Feldmann, Annick Clement, Michel Polak, Ralph Epaud

    Хэвлэсэн 2009
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    Artigo
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  2. 2
    Mutations in the Chloride Channel Gene CLCNKB as a Cause of Classic Bartter Syndrome

    Mutations in the Chloride Channel Gene CLCNKB as a Cause of Classic Bartter Syndrome -н Martin Konrad, Martin Vollmer, Henny H. Lemmink, Lambertus P. van den Heuvel, Nikola Jeck, Rosa Vargas‐Poussou, Alicia L. Lakings, Rainer Ruf, Georges DescheCombining Circumflex Accentnes, Corinne Antignac, Lisa M. Guay‐Woodford, Nine V.A.M. Knoers, HannsjoCombining Diaeresisrg W. Seyberth, Delphine Feldmann, Friedhelm Hildebrandt

    Хэвлэсэн 2000
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    Artigo
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  3. 3
    Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome

    Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome -н Rosa Vargas‐Poussou, Delphine Feldmann, Martin Vollmer, Martin Konrad, Lisa E. Kelly, Lambertus P. van den Heuvel, Lamia Tebourbi, M. Brandis, Lothar Károlyi, Steven Hébert, Henny H. Lemmink, Georges Deschênes, Friedhelm Hildebrandt, Hannsjörg W. Seyberth, Lisa M. Guay‐Woodford, Nine V.A.M. Knoers, Corinne Antignac

    Хэвлэсэн 1998
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    Artigo
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  4. 4
    Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children

    Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children -н Florence Flamein, Laure Riffault, Céline Muselet-Charlier, Julie Pernelle, Delphine Feldmann, Laurence Jonard, Anne-Marie Durand-Schneider, Aurore Coulomb, Michèle Maurice, Lawrence M. Nogee, Nobuya Inagaki, Serge Amselem, J.‐C. Dubus, Virginie Rigourd, François Brémont, Christophe Marguet, Jacques Brouard, J. de Blic, Annick Clément, Ralph Epaud, Loïc Guillot

    Хэвлэсэн 2011
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    Artigo
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  5. 5
    Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

    Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip -н M. Lévêque, Sandrine Marlin, Laurence Jonard, Vincent Procaccio, Pascal Reynier, Patrizia Amati‐Bonneau, Sylvain Baulande, Denis Pierron, Didier Lacombe, F Duriez, Christine Francannet, T. Mom, Hubert Journel, Hélène Catros, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Hélène Dollfus, Marie‐Madeleine Eliot, Laurence Faivre, C. Duvillard, Rémy Couderc, Éréa-Noël Garabédian, Christine Petit, Delphine Feldmann, Françoise Denoyelle

    Хэвлэсэн 2007
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    Artigo
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  6. 6
    Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

    Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France -н Mireille Claustres, Caroline Guittard, Dominique Bozon, Fran�oise Chevalier, C. Verlingue, Claude Férec, E. Girodon, C�cile Cazeneuve, Thierry Bienvenu, G. Lalau, Viviane Dumur, Delphine Feldmann, Éric Bieth, Martine Blayau, Christine Clavel, Isabelle Creveaux, Marie‐Claire Malinge, Nicole Monnier, Perrine Malzac, Herv� Mittre, Jean‐Claude Chomel, Jean‐Paul Bonnefont, A. Iron, Mich�le Chery, Marie des Georges

    Хэвлэсэн 2000
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    Artigo
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  7. 7
    SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

    SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations -н Sébastien Albert, Hélène Blons, Laurence Jonard, Delphine Feldmann, Pierre Chauvin, N. Loundon, Annie Sergent-Allaoui, Muriel Houang, Alain Joannard, S. Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, C. Calais, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Patrice Tran Ba Huy, Didier Lacombe, F Duriez, Christine Francannet, Pierre Bitoun, Christine Petit, Éréa-Noël Garabédian, Rémy Couderc, Sandrine Marlin, Françoise Denoyelle

    Хэвлэсэн 2006
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    Artigo
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  8. 8
    Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

    Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis -н Crystel Bonnet, M’hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, M. Parodi, Magali Niasme-Grare, Diana Zélénika, Marc Delépine, Delphine Feldmann, Laurence Jonard, A. Amraoui, Dominique Weil, Bruno Delobel, C. Vincent, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, C. Calais, Jacqueline Vigneron, B. Montaut-Verient, Dominique Bonneau, Jacques Dubin, Christel Thauvin, Alain Duvillard, Christine Francannet, T. Mom, Didier Lacombe, F Duriez, Valérie Drouin‐Garraud, Marie-Françoise Thuillier-Obstoy, Sabine Sigaudy, Anne-Marie Frances, Patrick Collignon, Georges Challe, Rémy Couderc, Mark Lathrop, José‐Alain Sahel, Jean Weissenbach, Christine Petit, Françoise Denoyelle

    Хэвлэсэн 2011
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    Artigo
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  9. 9
    Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes [published erratum appears in Hum Mol Genet 1997 Apr;6(4):650]

    Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Internati... -н Lothar Károlyi, Martin Konrad, Arnold Köckerling, Andreas Ziegler, D Zimmermann, Bernd Roth, Christian Wieg, Karl‐Heinz Grzeschik, Manuela C. Koch, Hannsjörg W. Seyberth, Rosa Vargas, Lionel Forestier, G Jean, M Deschaux, Gian Franco Rizzoni, Patrick Niaudet, Corinne Antignac, Delphine Feldmann, Frederique Lorridon, Emmanuel Cougoureux, Jean-Luc Alessandri, Louis David, Pascal Saunier, Georges Deschênes, Friedhelm Hildebrandt, Martin Vollmer, Willem Proesmans, M. Brandis, Lambertus P. van den Heuvel, Henny H. Lemmink, Willy M. Nillesen, L.A.H. Monnens, Nine Knoers, Lisa M. Guay‐Woodford, Christopher J. Wright, Gilbert Madrigal, Steven Hébert

    Хэвлэсэн 1997
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    Artigo
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  10. 10
    GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

    GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study -н Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, J Waligora, Małgorzata Mueller‐Malesińska, Agnieszka Pollak, Rafał Płoski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti, Ewa Nowakowska-Szyrwińska, Jerzy Bal, Wojciech Wiszniewski, Andreas Janecke, Doris Nekahm-Heis, Pavel Seeman, O. Bendová, Margaret A. Kenna, Anna Frangulov, Heidi L. Rehm, Mustafa Tekin, Armağan İncesulu, Hans‐Henrik M. Dahl, Desirée du Sart, Lucy Jenkins, Deirdre Lucas, Maria Bitner‐Glindzicz, Karen B. Avraham, Zippora Brownstein, Ignacio del Castillo, Felipe Moreno, Nikolaus Blin, Markus Pfister, István Sziklai, Tímea Tóth, Philip M. Kelley, Edward Cohn, Lionel Van Maldergem, Pascale Hilbert, Anne‐Françoise Roux, M. Mondain, Lies H. Hoefsloot, Cor W. R. J. Cremers, Tuija Löppönen, Heikki Löppönen, Agnete Parving, Karen Grønskov, Iris Schrijver, Joseph Roberson, Francesca Gualandi, Alessandro Martini, Geneviève Lina‐Granade, Nathalie Pallares‐Ruiz, Céu Correia, Graça Fialho, Kim Cryns, Nele Hilgert, Paul Van de Heyning, Carla Nishimura, Richard J. Smith, Guy Van Camp

    Хэвлэсэн 2005
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    Artigo
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