Výsledky vyhledávání - Christel Thauvin‐Robinet

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  1. 1
    Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

    Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study Autor Christel Thauvin‐Robinet

    Vydáno 2005
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  2. 2
    Update on oral-facial-digital syndromes (OFDS)

    Update on oral-facial-digital syndromes (OFDS) Autor Brunella Franco, Christel Thauvin‐Robinet

    Vydáno 2016
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    Revisão
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  3. 3
    A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

    A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease Autor Philippe Latour, Christel Thauvin‐Robinet, Chantal Baudelet-Méry, P Soichot, Véronica Cusin, Laurence Faivre, Marie-Claire Locatelli, Martine Mayençon, Annie Sarcey, Emmanuel Broussolle, William Camu, Albert David, Robert Rousson

    Vydáno 2010
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  4. 4
    A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

    A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia Autor Gaël Nicolas, Agnès Jacquin, Christel Thauvin‐Robinet, Anne Rovelet‐Lecrux, Olivier Rouaud, Cyril Pottier, Marie‐Hélène Aubriot‐Lorton, Stéphane Rousseau, David Wallon, C. Duvillard, Yannick Béjot, Thierry Frébourg, Maurice Giroud, Dominique Campion, Didier Hannequin

    Vydáno 2014
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  5. 5
    De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

    De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise Autor Karin Writzl, Aleš Maver, Lidija Kovačič, Paula Martínez-Valero, Laura Contreras, Jorgina Satrústegui, Marco Castori, Laurence Bonhomme‐Faivre, Pablo Lapunzina, André B. P. Kuilenburg, Slobodanka Radović, Christel Thauvin‐Robinet, Borut Peterlin, Araceli del Arco, Raoul C. M. Hennekam

    Vydáno 2017
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  6. 6
    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

    Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes Autor Leire Madariaga, Vincent Morinière, Marc Jeanpierre, Raymonde Bouvier, Philippe Loget, Jéléna Martinovic, Pierre Déchelotte, Nathalie Leporrier, Christel Thauvin-Robinet, Uffe Birk Jensen, Dominique Gaillard, Michèle Mathieu, Bruno Turlin, Tania Attié‐Bitach, Rémi Salomon, Marie‐Claire Gubler, Corinne Antignac, Laurence Heidet

    Vydáno 2013
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  7. 7
    Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

    Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families Autor Marjorlaine Willems, D. Genevieve, Guntram Borck, Clarisse Baumann, Geneviève Baujat, Éric Bieth, Patrick Edery, Chantal Farra, M. Gerard, Delphine Héron, Bruno Leheup, M Le Merrer, Stanislas Lyonnet, Dominique Martin–Coignard, M Mathieu, Christel Thauvin‐Robinet, Alain Verloès, Laurence Colleaux, Arnold Münnich, Valérie Cormier‐Daire

    Vydáno 2009
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  8. 8
    Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

    Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing Autor Ange‐Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thévenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean‐Marçais, Martin Chevarin, Thibaud Jouan, Charlotte Pöe, Patrick Callier, Emilie Tisserand, Christophe Philippe, Frédéric Tran Mau‐Them, Yannis Duffourd, Laurence Faivre, Christel Thauvin‐Robinet

    Vydáno 2019
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  9. 9
    MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

    MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone Autor Chunmei Li, Victor L. Jensen, Kwangjin Park, Julie Kennedy, Francesc R. García-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet, Jeremy F. Reiter, Oliver E. Blacque, Enza Maria Valente, Michel R. Leroux

    Vydáno 2016
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  10. 10
    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition Autor Amélie Piton, Hélène Poquet, Claire Redin, Alice Masurel, Julia Lauer, Jean Muller, Julien Thévenon, Yvan Herenger, Sophie Chancenotte, Marlène Bonnet, Jean‐Michel Pinoit, Frédéric Huet, Christel Thauvin‐Robinet, Anne-Sophie Jaeger, Stéphanie Le Gras, Bernard Jost, Bénédicte Gérard, Katell Peoc’h, Jean‐Marie Launay, Laurence Faivre, Jean‐Louis Mandel

    Vydáno 2013
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  11. 11
    OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome

    OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome Autor Véronique Chevrier, Ange‐Line Bruel, Teunis J. P. van Dam, Brunella Franco, Melissa Lo Scalzo, Frédérique Lembo, Stéphane Audebert, Emilie Baudelet, Daniel Isnardon, Angélique Bôle, Jean‐Paul Borg, Paul Kuentz, Julien Thévenon, Lydie Bürglen, Laurence Faivre, Jean‐Baptiste Rivière, Martijn A. Huynen, Daniel Birnbaum, Olivier Rosnet, Christel Thauvin‐Robinet

    Vydáno 2015
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  12. 12
    12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

    12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech Autor Julien Thévenon, Patrick Callier, Joris Andrieux, Bruno Delobel, Albert David, Sylvie Sukno, Delphine Minot, Laure Mosca Anne, Nathalie Marle, Damien Sanlaville, Marlène Bonnet, Alice Masurel‐Paulet, Fabienne Levy, Lorraine Gaunt, Sandra A. Farrell, Cédric Le Caignec, Annick Toutain, Virginie Carmignac, Francine Mugneret, Jill Clayton‐Smith, Christel Thauvin‐Robinet, Laurence Faivre

    Vydáno 2012
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  13. 13
    SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

    SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia Autor Cécilia Marelli, Joyce van de Leemput, Janel O. Johnson, François Tison, Christel Thauvin-Robinet, Fabienne Picard, Christine Tranchant, Dena G. Hernandez, Bernard Huttin, J Boulliat, I Sangla, Christian Marescaux, Serge Brique, Hélène Dollfus, Sampath Arepalli, Isabelle Bénatru, Elisabeth Ollagnon, Sylvie Forlani, John Hardy, Giovanni Stévanin, Alexandra Dürr, Andrew Singleton, Alexis Brice

    Vydáno 2011
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  14. 14
    OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

    OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin Autor Karlien L. M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock Hock Ngu, Bartłomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin‐Robinet, Joris A. Veltman, Mireille Boink, Tjitske Kleefstra, Frans P.M. Cremers, Hans van Bokhoven, Arjan P.M. de Brouwer

    Vydáno 2009
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  15. 15
    Cohen syndrome is associated with major glycosylation defects

    Cohen syndrome is associated with major glycosylation defects Autor Laurence Duplomb, Sandrine Duvet, Damien Picot, Gaëtan Jégo, Salima El Chehadeh-Djebbar, Nathalie Marle, Nadège Gigot, Bernard Aral, Virginie Carmignac, Julien Thévenon, Estelle Lopez, Jean‐Baptiste Rivière, André Klein, Christophe Philippe, Nathalie Droin, Edward Blair, François Girodon, Jean Donadieu, Christine Bellanné‐Chantelot, Laurent Delva, Jean‐Claude Michalski, Éric Solary, Laurence Faivre, François Foulquier, Christel Thauvin‐Robinet

    Vydáno 2013
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  16. 16
    SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

    SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations Autor Stéphanie Millecamps, François Salachas, C. Cazeneuve, Gordon Gilbert, Bernard Bricka, A. Camuzat, Léna Guillot‐Noël, Odile Russaouen, Gaëlle Bruneteau, Pierre‐François Pradat, Nadine Le Forestier, N. Vandenberghe, Véronique Danel-Brunaud, Nathalie Guy, Christel Thauvin-Robinet, Lucette Lacomblez, P. Couratier, Didier Hannequin, Danielle Seilhean, Isabelle Le Ber, P. Corcia, William Camu, Alexis Brice, Guy A. Rouleau, Eric Leguern, Vincent Meininger

    Vydáno 2010
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  17. 17
    High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to<i>PRKAG2</i>mutations

    High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to<i>PRKAG2</i>mutations Autor Julien Thévenon, Gabriel Laurent, Flavie Ader, Pascal Laforêt, Didier Klug, Anju Duva Pentiah, Laurent Gouya, Claude Alain Maurage, Salem Kacet, Jean‐Christophe Eicher, Juliette Albuisson, Michel Desnos, Éric Bieth, Denis Duboc, Laurent Martin, Patricia Réant, François Picard, Claire Bonithon‐Kopp, Élodie Gautier, Christine Binquet, Christel Thauvin‐Robinet, Laurence Bonhomme‐Faivre, Patrice Bouvagnet, Philippe Charron, Pascale Richard

    Vydáno 2016
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  18. 18
    HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

    HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans Autor Floor A.M. Duijkers, Andrew McDonald, Georges E. Janssens, Marco Lezzerini, Aldo Jongejan, Silvana van Koningsbruggen, Wendela G. Leeuwenburgh-Pronk, Marcin W. Włodarski, Sébastien Moutton, Frédéric Tran Mau‐Them, Christel Thauvin‐Robinet, Laurence Faivre, Kristin G. Monaghan, Thomas Smol, Odile Boute‐Bénéjean, Roger L. Ladda, Susan L. Sell, Ange‐Line Bruel, Riekelt H. Houtkooper, Alyson W. MacInnes

    Vydáno 2019
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  19. 19
    Multifocal Ectopic Purkinje-Related Premature Contractions

    Multifocal Ectopic Purkinje-Related Premature Contractions Autor Gabriel Laurent, Samuel Saal, Mohamed‐Yassine Amarouch, Delphine Béziau, Roos F. Marsman, Laurence Faivre, Julien Barc, Christian Dina, Géraldine Bertaux, Olivier Barthez, Christel Thauvin‐Robinet, Philippe Charron, Véronique Fressart, Alice Maltret, E Villain, Estelle Baron, Jean Mérot, Rodolphe Turpault, Yves Coudière, Flavien Charpentier, Jean‐Jacques Schott, Gildas Loussouarn, Arthur A.M. Wilde, Jean‐Eric Wolf, Isabelle Baró, Florence Kyndt, Vincent Probst

    Vydáno 2012
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  20. 20
    TCTN3 Mutations Cause Mohr-Majewski Syndrome

    TCTN3 Mutations Cause Mohr-Majewski Syndrome Autor Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Lœuillet, Katarzyna Szymańska, Frédérique Jossic, Dominique Gaillard, Mohamed Tahar Yacoubi, Soumaya Mougou-Zerelli, Albert David, Marie-Anne Barthez, Y. Ville, Christine Bôle‐Feysot, Patrick Nitschké, Stanislas Lyonnet, Arnold Münnich, Colin A. Johnson, Férechté Encha‐Razavi, Valérie Cormier‐Daire, Christel Thauvin‐Robinet, Michel Vekemans, Tania Attié‐Bitach

    Vydáno 2012
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