Arama Sonuçları - Damien Sanlaville

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  1. 1
    CHARGE syndrome: an update

    CHARGE syndrome: an update Yazar: Damien Sanlaville, Alain Verloès

    Baskı/Yayın Bilgisi 2007
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  2. 2
    Distal Xq duplication and functional Xq disomy

    Distal Xq duplication and functional Xq disomy Yazar: Damien Sanlaville, Caroline Schluth–Bolard, C Turleau

    Baskı/Yayın Bilgisi 2009
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  3. 3
    Relapsing encephalopathy with cerebellar ataxia related to an <i><scp>ATP</scp>1A3</i> mutation

    Relapsing encephalopathy with cerebellar ataxia related to an <i><scp>ATP</scp>1A3</i> mutation Yazar: Rodolphe Dard, Cyril Mignot, Alexandra Dürr, Gaëtan Lesca, Damien Sanlaville, Emmanuel Roze, Fanny Mochel

    Baskı/Yayın Bilgisi 2015
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  4. 4
    View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children

    View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children Yazar: Claire Caillot, Étienne Javouhey, S. Haÿs, Evan Gouy, Pauline Monin, Gaëtan Lesca, Damien Sanlaville, Nicolas Chatron

    Baskı/Yayın Bilgisi 2025
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  5. 5
    Sex gap in aging and longevity: can sex chromosomes play a role?

    Sex gap in aging and longevity: can sex chromosomes play a role? Yazar: Gabriel Marais, Jean‐Michel Gaillard, Cristina Vieira, Ingrid Plotton, Damien Sanlaville, François Gueyffier, Jean‐François Lemaître

    Baskı/Yayın Bilgisi 2018
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  6. 6
    Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

    Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome Yazar: Richard Redon, Geneviève Baujat, Damien Sanlaville, Martine Le Merrer, Michel Vekemans, Arnold Münnich, Nigel P. Carter, Valérie Cormier‐Daire, Laurence Colleaux

    Baskı/Yayın Bilgisi 2006
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  7. 7
    Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

    Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome Yazar: Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Münnich, Christine Gicquel, Valérie Cormier‐Daire, Laurence Colleaux

    Baskı/Yayın Bilgisi 2004
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  8. 8
    Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

    Behavioral disturbance and treatment strategies in Smith-Magenis syndrome Yazar: Alice Poisson, Alain Nicolas, Pierre Cochat, Damien Sanlaville, Caroline Rigard, Hélène De Leersnyder, Patricia Franco, Vincent des Portes, Patrick Edery, Caroline Demily

    Baskı/Yayın Bilgisi 2015
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  9. 9
    The C20orf133 gene is disrupted in a patient with Kabuki syndrome

    The C20orf133 gene is disrupted in a patient with Kabuki syndrome Yazar: Nicole Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Connie Schrander‐Stumpel, Damien Sanlaville, David Geneviève, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, J P Fryns, Joris Vermeesch

    Baskı/Yayın Bilgisi 2007
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  10. 10
    Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

    Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) Yazar: Nicole Maas, Griet Van Buggenhout, Femke Hannes, Bernard Thienpont, Damien Sanlaville, Klaas Kok, Alina T. Midro, Joris Andrieux, B-M Anderlid, Jacqueline Schoumans, Roel Hordijk, Koenraad Devriendt, JP Fryns, Joris Vermeesch

    Baskı/Yayın Bilgisi 2007
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  11. 11
    Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

    Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties Yazar: David Geneviève, Damien Sanlaville, Laurence Faivre, Marie‐Laure Kottler, Marguerite Jambou, Philippe Gosset, Dinane Boustani-Samara, Graziella Pinto, Catherine Ozilou, Geneviève Abéguilé, Arnold Munnich, Serge Romana, O Raoul, Valérie Cormier‐Daire, Michel Vekemans

    Baskı/Yayın Bilgisi 2005
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  12. 12
    Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

    Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes Yazar: Capucine Delnatte, Damien Sanlaville, Jean-François Mougenot, Joris Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Geneviève, Olivier Goulet, Jean‐Pierre Fryns, Francis Jaubert, Michel Vekemans, Stanislas Lyonnet, Serge Romana, Charis Eng, Dominique Stoppa‐Lyonnet

    Baskı/Yayın Bilgisi 2006
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  13. 13
    Guidelines for molecular karyotyping in constitutional genetic diagnosis

    Guidelines for molecular karyotyping in constitutional genetic diagnosis Yazar: Joris Vermeesch, Heike Fiegler, Nicole de Leeuw, Károly Szuhai, Jacqueline Schoumans, Roberto Ciccone, Frank Speleman, Anita Rauch, Jill Clayton‐Smith, Conny van Ravenswaaij, Damien Sanlaville, Philippos C. Patsalis, Helen V. Firth, Koenraad Devriendt, Orsetta Zuffardi

    Baskı/Yayın Bilgisi 2007
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  14. 14
    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism

    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism Yazar: Gaëtan Lesca, Gabrielle Rudolf, Audrey Labalme, Édouard Hirsch, Alexis Arzimanoglou, Pierre Genton, Jacques Motté, Anne de Saint Martin, Maria‐Paola Valenti, Clotilde Boulay, Julitta de Bellescize, Pascale Kéo‐Kosal, Nadia Boutry‐Kryza, Patrick Edery, Damien Sanlaville, Pierre Szepetowski

    Baskı/Yayın Bilgisi 2012
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  15. 15
    Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

    Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders Yazar: M-L Jacquemont, Damien Sanlaville, Richard Redon, O Raoul, Valérie Cormier‐Daire, Stanislas Lyonnet, Jeanne Amiel, M Le Merrer, D. Héron, M‐C De Blois, M Prieur, Michel Vekemans, N P Carter, A Munnich, Laurence Colleaux, Anne Philippe

    Baskı/Yayın Bilgisi 2006
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  16. 16
    Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome

    Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome Yazar: Miriam Essid, Sana Karoui, M. Zribi, Thouraya Ben Younes, Louis Januel, Estelle Lafont, Audrey Labalme, Meriem Ben Hafsa, Go Hun Seo, S. Khatrouch, Hela Boudabous, Amel Ben Chehida, Damien Sanlaville, Houweyda Jilani, Lamia Benjemaa, Ichraf Kraoua, Gaëtan Lesca, Nicolas Chatron

    Baskı/Yayın Bilgisi 2025
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  17. 17
    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i>

    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i> Yazar: Sarra Dimassi, Audrey Labalme, Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau, Édouard Hirsch, Alexis Arzimanoglou, Jacques Motté, Anne de Saint Martin, Nadia Boutry‐Kryza, Robin Cloarec, Afaf Benitto, Agnès Ameil, Patrick Edery, Philippe Ryvlin, Julitta de Bellescize, Pierre Szepetowski, Damien Sanlaville

    Baskı/Yayın Bilgisi 2013
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  18. 18
    <i>PRRT2</i> links infantile convulsions and paroxysmal dyskinesia with migraine

    <i>PRRT2</i> links infantile convulsions and paroxysmal dyskinesia with migraine Yazar: Robin Cloarec, Nadine Bruneau, Gabrielle Rudolf, Annick Massacrier, Manal Salmi, Marc Bataillard, Clotilde Boulay, Roberto Caraballo, Natalio Fejerman, Pierre Genton, Édouard Hirsch, Alasdair G. W. Hunter, Gaëtan Lesca, Jacques Motté, Agathe Roubertie, Damien Sanlaville, Sau-Wei Wong, Ying‐Hui Fu, Jacques Rochette, Louis J. Ptác̆ek, Pierre Szepetowski

    Baskı/Yayın Bilgisi 2012
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  19. 19
    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases Yazar: Caroline Schluth–Bolard, Bruno Delobel, Damien Sanlaville, Odile Boute, Jean‐Marie Cuisset, Sylvie Sukno, Audrey Labalme, Bénédicte Duban‐Bedu, Ghislaine Plessis, Sylvie Jaillard, Christèle Dubourg, Cathérine Henry, Josette Lucas, Sylvie Odent, Laurent Pasquier, Henri Copin, Philippe Latour, Marie‐Pierre Cordier, Gwenaël Nadeau, Marianne Till, Patrick Edery, Joris Andrieux

    Baskı/Yayın Bilgisi 2009
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  20. 20
    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 Yazar: 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

    Baskı/Yayın Bilgisi 2012
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