Ohcanbohtosat - Pierre Sarda

Aiddostahte ozu
  1. 1
    Δ6- and Δ5-desaturase activities in the human fetal liver: kinetic aspects

    Δ6- and Δ5-desaturase activities in the human fetal liver: kinetic aspects Dahkki A. Rodríguez, Pierre Sarda, C Nessmann, Pierre Boulot, Claude Léger, B. Descomps

    Almmustuhtton 1998
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  2. 2
    Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome

    Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome Dahkki Nathalie Boutet, Yves‐Jean Bignon, Valérie Drouin‐Garraud, Pierre Sarda, Michel Longy, Didier Lacombe, Philippe Gorry

    Almmustuhtton 2003
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    Artigo
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  3. 3
    Bardet-Biedl Syndrome

    Bardet-Biedl Syndrome Dahkki O. Imhoff, Vincent Marion, Corinne Stoetzel, M. Durand, Muriel Holder, Sabine Sigaudy, Pierre Sarda, Christian P. Hamel, Christian Brandt, Hélène Dollfus, Bruno Moulin

    Almmustuhtton 2010
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    Artigo
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  4. 4
    1H–13C NMR-based urine metabolic profiling in autism spectrum disorders

    1H–13C NMR-based urine metabolic profiling in autism spectrum disorders Dahkki Sylvie Mavel, Lydie Nadal‐Desbarats, Hélène Blasco, Frédérique Bonnet‐Brilhault, Catherine Barthélémy, Fréderic Montigny, Pierre Sarda, Frédéric Laumonnier, Patrick Vourc’h, Christian Andrés, Patrick Emond

    Almmustuhtton 2013
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  5. 5
    Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

    Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype Dahkki Sylvie Tordjman, George M. Anderson, Michel Botbol, Annick Toutain, Pierre Sarda, Michèle Carlier, Pascale Saugier‐Veber, Clarisse Baumann, David Cohen, Céline Lagneaux, Anne‐Claude Tabet, Alain Verloès

    Almmustuhtton 2012
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  6. 6
    GC-MS-based urine metabolic profiling of autism spectrum disorders

    GC-MS-based urine metabolic profiling of autism spectrum disorders Dahkki Patrick Emond, Sylvie Mavel, Nacima Aïdoud, Lydie Nadal‐Desbarats, Fréderic Montigny, Frédérique Bonnet‐Brilhault, Catherine Barthélémy, Marc Merten, Pierre Sarda, Frédéric Laumonnier, Patrick Vourc’h, Hélène Blasco, Christian Andrés

    Almmustuhtton 2013
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  7. 7
    Impaired Development Of Neural-Crest Cell Derived Organs and Intellectual Disability Caused By<i>MED13L</i>Haploinsufficiency

    Impaired Development Of Neural-Crest Cell Derived Organs and Intellectual Disability Caused By<i>MED13L</i>Haploinsufficiency Dahkki Kagistia Hana Utami, Cecilia Lanny Winata, Axel M. Hillmer, Irène Aksoy, Hoang Truong Long, Herty Liany, Elaine Guo Yan Chew, Sinnakaruppan Mathavan, S K Tay, Vladimir Korzh, Pierre Sarda, Sonia Dávila, Valère Cacheux

    Almmustuhtton 2014
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    Revisão
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  8. 8
    Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

    Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus Dahkki Pierre Cacciagli, Julie Sutera-Sardo, Ana Borges-Correia, Jean‐Christophe Roux, Imen Dorboz, Jean-Pierre Desvignes, Catherine Badens, Marc Delépine, Mark Lathrop, Pierre Cau, Nicolas Lévy, Nadine Girard, Pierre Sarda, Odile Boespflug‐Tanguy, Laurent Villard

    Almmustuhtton 2013
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  9. 9
    Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

    Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain Dahkki Renaud Touraine, Tania Attié‐Bitach, E. Manceau, Eckhard Korsch, Pierre Sarda, Véronique Pingault, Férechté Encha‐Razavi, Anna Pelet, Joëlle Augé, A Nivelon‐Chevallier, A. M. Holschneider, Marc Munnes, Walter Doerfler, Michel Goossens, A Munnich, Michel Vekemans, Stanislas Lyonnet

    Almmustuhtton 2000
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  10. 10
    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 Dahkki Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attié‐Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pierre Sarda, Echaieb Anis, Marilyn Lackmy-Port-Lis, Renaud Touraine, Jeanne Amiel, Michel Goossens, Véronique Pingault

    Almmustuhtton 2007
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  11. 11
    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome

    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome Dahkki Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michèle Mathieu‐Dramard, G Morin, Dominique Martin–Coignard, Christèle Dubourg, B. Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens, Anne Moncla

    Almmustuhtton 2008
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  12. 12
    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences Dahkki Solveig Heide, Sandra Chantot‐Bastaraud, Boris Keren, Madeleine D. Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S. Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Éloïse Giabicani, Jean‐Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude

    Almmustuhtton 2017
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  13. 13
    Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

    Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort Dahkki Haifa Hichri, Corinne Stoetzel, Virginie Laurier, Solenne Caron, Sabine Sigaudy, Pierre Sarda, Christian Hamel, Dominique Martin–Coignard, Gilles Morin, Bruno Leheup, Mureille Holder, Josseline Kaplan, Pierre Bitoun, Didier Lacombe, Alain Verloès, Dominique Bonneau, Fabienne Perrin‐Schmitt, Christian Brandt, Anne-Françoise Besancon, Jean‐Louis Mandel, Mireille Cossée, Hélène Dollfus

    Almmustuhtton 2005
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  14. 14
    Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

    Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes Dahkki Martine Doco‐Fenzy, Camille Leroy, Anouck Schneider, Florence Petit, Marie‐Ange Delrue, Joris Andrieux, Laurence Perrin‐Sabourin, Emilie Landais, Azzedine Aboura, Jacques Puechberty, Manon Girard, Magali Tournaire, Elodie Sanchez, Caroline Rooryck, Agnès Ameil, Michel Goossens, Philippe Jonveaux, Geneviève Lefort, Laurence Taine, Dorothée Cailley, Dominique Gaillard, Bruno Leheup, Pierre Sarda, David Geneviève

    Almmustuhtton 2013
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  15. 15
    Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

    Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome Dahkki Corinne Stoetzel, Jean Muller, Virginie Laurier, Erica E. Davis, Norann A. Zaghloul, Serge Vicaire, Cécile Jacquelin, Frédéric Plewniak, Carmen C. Leitch, Pierre Sarda, Christian Hamel, Thomy de Ravel, Richard A. Lewis, Evelyne Friederich, Christelle Thibault-Carpentier, Jean-Marc Danse, Alain Verloès, Dominique Bonneau, Nicholas Katsanis, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus

    Almmustuhtton 2006
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  16. 16
    Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

    Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway Dahkki Christèle Dubourg, Wilfrid Carré, Houda Hamdi‐Rozé, Charlotte Mouden, J. Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes, Laurence Faivre-Olivier, Emmanuelle Ginglinger, Marie Gonzalès, Annie Levy‐Mozziconacci, Sally Ann Lynch, Sophie Naudion, Laurent Pasquier, Amélie Poidvin, Fabienne Prieur, Pierre Sarda, Annick Toutain, Valérie Dupé, Linda Akloul, Sylvie Odent, Marie de Tayrac, Véronique David

    Almmustuhtton 2016
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  17. 17
    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies Dahkki Marie Coutelier, Giulia Coarelli, Marie‐Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Béhin, Giovanni Castelnovo, Perrine Charles, Albert David, Claire Ewenczyk, Mélanie Fradin, Cyril Goizet, Didier Hannequin, Pierre Labauge, Florence Riant, Pierre Sarda, Yves Sznajer, François Tison, Urielle Ullmann, Lionel Van Maldergem, Fanny Mochel, Alexis Brice, Giovanni Stévanin, Alexandra Dürr

    Almmustuhtton 2017
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  18. 18
    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic ence... Dahkki Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Cathérine Garel, Sandra Chantot‐Bastaraud, Élodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Héron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie‐Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Bürglen

    Almmustuhtton 2018
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  19. 19
    Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

    Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction Dahkki Katrin Koehler, Meera Malik, Saqib Mahmood, Sebastian Gießelmann, Christian Beetz, J. Christopher Hennings, Antje K. Huebner, Ammi Grahn, Janine Reunert, Gudrun Nürnberg, Hölger Thiele, Janine Altmüller, Peter Nürnberg, Rizwan Mumtaz, Dusica Babovic‐Vuksanovic, Lina Basel‐Vanagaite, Guntram Borck, Jürgen Brämswig, R. Mühlenberg, Pierre Sarda, Alma Sikiric, Kwame Anyane‐Yeboa, Avraham Zeharia, Arsalan Ahmad, Christine Coubes, Yoshinao Wada, Thorsten Marquardt, Dieter Vanderschaeghe, Emile Van Schaftingen, Ingo Kurth, Angela Huebner, Christian A. Hübner

    Almmustuhtton 2013
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  20. 20
    Mutations in the pre-replication complex cause Meier-Gorlin syndrome

    Mutations in the pre-replication complex cause Meier-Gorlin syndrome Dahkki Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, Stephen Brown, Jeroen Schoots, Margaret E Harley, Salim Aftimos, Jumana Y. Al‐Aama, Michael B. Bober, Paul A. Brown, Hans van Bokhoven, John Dean, Alaa Edrees, Murray Feingold, Alan Fryer, Lies H. Hoefsloot, Nikolaus Kau, Nine Knoers, J. M. MacKenzie, John M. Opitz, Pierre Sarda, Alison Ross, I. Karen Temple, Annick Toutain, Carol A. Wise, Michael Wright, Andrew P. Jackson

    Almmustuhtton 2011
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