Resultats de la cerca - Caroline Nava

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  1. 1
    O DESEJO NOS TEMPOS DE LIQUIDEZ: notas sobre o amor e o erotismo na modernidade das expressões sólidas

    O DESEJO NOS TEMPOS DE LIQUIDEZ: notas sobre o amor e o erotismo na modernidade das expressões sólidas per Silvia Cristianne Nava Lopes, Anne Caroline Nava Lopes

    Publicat 2022
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  2. 2
    Paternal age effects on sperm<i>FOXK1</i>and<i>KCNA7</i>methylation and transmission into the next generation

    Paternal age effects on sperm<i>FOXK1</i>and<i>KCNA7</i>methylation and transmission into the next generation per Stefanie Atsem, Juliane Reichenbach, Ramya Potabattula, Marcus Dittrich, Caroline Nava, Christel Depienne, Lena Böhm, Simone Rost, Thomas von Hahn, Martin Schorsch, Thomas Haaf, Nady El Hajj

    Publicat 2016
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  3. 3
    Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

    Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene per Dea Adamsen, V. Ramaekers, Horace T. B. Ho, Corinne Britschgi, Véronique Rüfenacht, David Meili, Elise Bobrowski, Philippe Paule, Caroline Nava, Lionel Van Maldergem, Rémy Bruggmann, Susanne Walitza, Joanne Wang, Edna Grünblatt, Beat Thöny

    Publicat 2014
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  4. 4
    Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome

    Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome per Hélène Darville, Aurélie Poulet, Frédérique Rodet-Amsellem, Laure Chatrousse, Julie Pernelle, Claire Boissart, Delphine Héron, Caroline Nava, Anselme L. Perrier, Margot Jarrige, Francis Cogé, Mark J. Millan, Thomas Bourgeron, Marc Peschanski, Richard Delorme, Alexandra Benchoua

    Publicat 2016
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  5. 5
    Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

    Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood per Simon Edvardson, Claudia M. Nicolae, Pankaj B. Agrawal, Cyril Mignot, Katelyn Payne, Asuri N. Prasad, Chitra Prasad, Laurie S. Sadler, Caroline Nava, Thomas E. Mullen, Amber Begtrup, Berivan Baskin, Zöe Powis, Avraham Shaag, Boris Keren, George‐Lucian Moldovan, Orly Elpeleg

    Publicat 2017
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  6. 6
    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome

    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome per Caroline Nava, Nadine Hanna, Caroline Michot, Sérgio L. Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yasuhiro Aoki, Yoichi Matsubara, Benoı̂t Arveiler, Didier Lacombe, Éric Pasmant, B. Parfait, Clarisse Baumann, Delphine Héron, S. Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloès, Hélène Cavé

    Publicat 2007
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  7. 7
    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders per Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot‐Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Diane Doummar, Nathalie Dorison, Marion Leboyer, Jean‐Pierre Siffroi, David Cohen, Alexis Brice, Delphine Héron, Christel Depienne

    Publicat 2013
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  8. 8
    Epilepsy with migrating focal seizures

    Epilepsy with migrating focal seizures per Giulia Barcia, Nicole Chémaly, Mathieu Kuchenbuch, Monika Eisermann, Stéphanie Gobin‐Limballe, Viorica Ciorna, Alfons Macaya, Laëtitia Lambert, Fanny Dubois, Diane Doummar, Thierry Billette de Villemeur, Nathalie Villeneuve, Marie-Anne Barthez, Caroline Nava, Nathalie Boddaert, Anna Kaminśka, Nadia Bahi‐Buisson, Mathieu Milh, Stéphane Auvin, Jean‐Paul Bonnefont, Rima Nabbout

    Publicat 2019
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  9. 9
    Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

    Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE per Caroline Nava, Foudil Lamari, Delphine Héron, Cyril Mignot, Agnès Rastetter, Boris Keren, David Cohen, Anne Faudet, Delphine Bouteiller, Martine Gilleron, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Claudine Laurent, Céline Dupuits, Cécile Gautier, Marion Gérard, Guillaume Huguet, S Caillet, Bruno Leheup, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron, Alexis Brice, Christel Depienne

    Publicat 2012
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  10. 10
    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations

    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations per Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy J. Maarup, Dean Sarco, Alexandra Afenjar, A.H.M. Mahbubul Huq, Mary K. Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic

    Publicat 2019
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  11. 11
    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction per Julia Wang, Justine Rousseau, Emily Kim, Sophie Ehresmann, Yi-Ting Cheng, Lita Duraine, Zhongyuan Zuo, Ye-Jin Park, David Li‐Kroeger, Weimin Bi, Lee-Jun Wong, Jill A. Rosenfeld, Joseph G. Gleeson, Eissa Faqeih, Fowzan S. Alkuraya, Klaas J. Wierenga, Jiani Chen, Alexandra Afenjar, Caroline Nava, Diane Doummar, Boris Keren, Jane Juusola, Markus Grompe, Hugo J. Bellen, Philippe M. Campeau

    Publicat 2019
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  12. 12
    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients per Elouan Chérot, Boris Keren, Christèle Dubourg, Wilfried Carré, Mélanie Fradin, Alinoë Lavillaureix, Alexandra Afenjar, Lydie Bürglen, Sandra Whalen, Perrine Charles, Isabelle Marey, Solveig Heide, Aurélia Jacquette, Delphine Héron, Diane Doummar, Diana Rodriguez, T Billette de Villemeur, M.L. Moutard, Agnès Guët, Jean Xavier, Didier Périsse, David Cohen, Florence Démurger, Chloé Quēlin, Christel Depienne, Sylvie Odent, Caroline Nava, Véronique David, Laurent Pasquier, Cyril Mignot

    Publicat 2017
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  13. 13
    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly per Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart Douglas, Danielle C. Lynch, Chandree L. Beaulieu, Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide, Blanca Gener, Gabriele Gillessen‐Kaesbach, Caroline Nava, Geneviève Baujat, Denise Horn, Usha Kini, Almuth Caliebe, Yasemin Alanay, Gülen Eda Ütine, Dorit Lev, Jürgen Kohlhase, Arthur W. Grix, Dietmar Lohmann, Ute Hehr, Detlef Böhm, Jacek Majewski, Dennis E. Bulman, Dagmar Wieczorek, Kym M. Boycott

    Publicat 2012
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  14. 14
    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy per Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki, Eric Toyota, Margot I. Van Allen, Mohnish Suri, Frances Elmslie, Marleen Simon, Koen L.I. van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary Connolly, Michelle Demos, Matthew J. Farrer, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Tara Candido, Patrice Eydoux, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Clara van Karnebeek, Suzanne Vercauteren

    Publicat 2017
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  15. 15
    <i>DCC</i>mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

    <i>DCC</i>mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome per Ashley P.L. Marsh, Timothy J. Edwards, Charles A. Galea, Helen Cooper, Elizabeth C. Engle, Saumya Shekhar Jamuar, Aurélie Méneret, Marie‐Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy A. Rouleau, Emmanuel Roze, Megan Spencer‐Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A. Walsh, Timothy W. Yu, Delphine Héron, Elliott H. Sherr, Linda J. Richards, Christel Depienne, Richard J. Leventer, Paul J. Lockhart

    Publicat 2017
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  16. 16
    Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

    Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity per Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, C. R. Weber, Carlos A. Bacino, Kristin Barañano, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin‐Robinet, Marjan M. Weiss, Gladys Zapata, Petra Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin

    Publicat 2020
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  17. 17
    A recurrent <i>de novo</i> splice site variant involving <i>DNM1</i> exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

    A recurrent <i>de novo</i> splice site variant involving <i>DNM1</i> exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism per Shridhar Parthasarathy, Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires, David B. Ascher, Alain Schmitt, Caroline Rambaud, Hongbo Xie, Laina Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, Alexandra N Grace, Julien Buratti, Cyril Mignot, Domitille Gras, Caroline Nava, Samuel R. Pierce, Boris Keren, Benjamin C. Kennedy, Sérgio D.J. Pena, Ingo Helbig, Vishnu Anand Cuddapah

    Publicat 2022
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  18. 18
    A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

    A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism per Shridhar Parthasarathy, Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires, David B. Ascher, Alain Schmitt, Caroline Rambaud, Alfonso Represa, Hongbo Xie, Laina Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, Alexandra N Grace, Julien Buratti, Cyril Mignot, Domitille Gras, Caroline Nava, Samuel R. Pierce, Boris Keren, Benjamin C. Kennedy, Sérgio D.J. Pena, Ingo Helbig, Vishnu Anand Cuddapah

    Publicat 2022
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  19. 19
    Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

    Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency per Chloé Saunier, Svein I. Støve, Bernt Popp, Bénédicte Gérard, Marina Blenski, Nicholas AhMew, Charlotte de Bie, Paula Goldenberg, Bertrand Isidor, Boris Keren, Bruno Leheup, Laetitia Lampert, Cyril Mignot, Kamer Tezcan, Grazia M.S. Mancini, Caroline Nava, Melissa Wasserstein, Ange‐Line Bruel, Julien Thévenon, Alice Masurel, Yannis Duffourd, Paul Kuentz, Frédéric Huet, Jean‐Baptiste Rivière, Marjon A. van Slegtenhorst, Laurence Faivre, Amélie Piton, André Reis, Thomas Arnesen, Christel Thauvin‐Robinet, Christiane Zweier

    Publicat 2016
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  20. 20
    The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

    The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature per Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Mélanie Fradin, Yline Capri, Delphine Héron, Marie‐Christine Nouguès, Caroline Nava, Oana Tarta Arsene, Debbie Shears, John Taylor, Alistair T. Pagnamenta, Jenny C. Taylor, Yoshimi Sogawa, Diana Johnson, Helen V. Firth, Pradeep Vasudevan, Gabriela Jones, Marie-Ange Nguyen-Morel, Tiffany Busa, Agathe Roubertie, Myrthe van den Born, Elise Brischoux‐Boucher, M. Kœnig, Cyril Mignot, Usha Kini, Christophe Philippe

    Publicat 2018
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