نتائج البحث - Daniel Amram

  • يعرض 1 - 9 نتائج من 9
تنقيح النتائج
  1. 1
    Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers

    Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers حسب Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider, Rupert Handgretinger, Olivier Delattre

    منشور في 1999
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

    A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy حسب Juliette Piard, George K. E. Umanah, Frederike L. Harms, Leire Abalde-Atristain, Daniel Amram, Melissa Chang, Rong Chen, Malik Alawi, Vincenzo Salpietro, Mark I. Rees, Seo‐Kyung Chung, Henry Houlden, Alain Verloès, Ted M. Dawson, Valina L. Dawson, Lionel Van Maldergem, Kerstin Kutsche

    منشور في 2017
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  3. 3
    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 حسب 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

    منشور في 2016
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  4. 4
    Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

    Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects حسب Esther Kott, Marie Legendre, Bruno Copin, Jean‐François Papon, Florence Dastot‐Le Moal, Guy Montantin, Philippe Duquesnoy, William Piterboth, Daniel Amram, Laurence Bassinet, J. Beucher, Nicole Beydon, Eric Deneuville, Véronique Houdouin, Hubert Journel, J. Just, Nadia Nathan, Aline Tamalet, Nathalie Collot, Ludovic Jeanson, Morgane Le Gouez, Benoit Vallette, Anne-Marie Vojtek, Ralph Epaud, A. Coste, Annick Clément, Bruno Housset, Bruno Louis, Estelle Escudier, Serge Amselem

    منشور في 2013
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  5. 5
    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update حسب Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bértoli, Tiffany Busa, Berten Ceulemans, Julie Désir, Martine Doco‐Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Kasole Lubala, Michèle Mathieu‐Dramard, Hélène Maurey, Julia Métreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier-Ringenbach, Massimiliano Rossi, Élise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin‐Crépon, Corinne Alberti, Monique Elmaleh, Brigitte Benzacken, Bernd Wollnick, C. Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressèns, Alain Verloès, Sandrine Passemard

    منشور في 2017
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  6. 6
    New insights into genotype–phenotype correlation for GLI3 mutations

    New insights into genotype–phenotype correlation for GLI3 mutations حسب Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Anne‐Lise Delezoide, Chloé Quēlin, Sylvie Manouvrier, Geneviève Baujat, Mélanie Fradin, Laurent Pasquier, André Mégarbané, Laurence Faivre, Clarisse Baumann, Sheela Nampoothiri, J. Roume, Bertrand Isidor, Didier Lacombe, Marie‐Ange Delrue, Sandra Mercier, Nicole Philip, Élise Schaefer, Muriel Holder, Amanda Krause, Fanny Laffargue, Martine Sinico, Daniel Amram, Gwenaëlle André, Alain Liquier, Massimiliano Rossi, Jeanne Amiel, Fabienne Giuliano, Odile Boute, Anne Dieux‐Coëslier, Marie‐Line Jacquemont, Alexandra Afenjar, Lionel Van Maldergem, Marylin Lackmy-Port-Lis, Catherine Vincent- Delorme, Marie-Liesse Chauvet, Valérie Cormier‐Daire, Louise Devisme, David Geneviève, Arnold Münnich, Géraldine Viot, O Raoul, Serge Romana, Marie Gonzalès, Férechté Encha‐Razavi, Sylvie Odent, Michel Vekemans, Tania Attié‐Bitach

    منشور في 2014
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  7. 7
    Variants in<i>CUL4B</i>are Associated with Cerebral Malformations

    Variants in<i>CUL4B</i>are Associated with Cerebral Malformations حسب Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi‐Buisson, Stefan A. Haas, Hao Hu, Melanie Bienek, Lisenka E.L.M. Vissers, Christian Gilissen, Andreas Tzschach, Andreas Busche, Jörg Müsebeck, Patrick Rump, Inge B. Mathijssen, Kristiina Avela, Mirja Somer, Fatma Doagu, Anju K. Philips, Anita Rauch, Alessandra Baumer, Krysta Voesenek, Karine Poirier, Jacqueline Vigneron, Daniel Amram, Sylvie Odent, Magdalena Nawara, Ewa Obersztyn, Jacek Lenart, Agnieszka Charzewska, Nicolas Lebrun, Ute Fischer, Willy M. Nillesen, Helger G. Yntema, Irma Järvelä, Hans-Hilger Ropers, Bert B.A. de Vries, Han G. Brunner, Hans van Bokhoven, F. Lucy Raymond, Michèl A.A.P. Willemsen, Jamel Chelly, Yue Xiong, A. James Barkovich, Vera M. Kalscheuer, Tjitske Kleefstra, Arjan P.M. de Brouwer

    منشور في 2014
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  8. 8
    Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

    Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing حسب Paul Kuentz, Judith St‐Onge, Yannis Duffourd, Jean‐Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, C. Abasq‐Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attié‐Bitach, Nadia Bahi‐Buisson, S. Barbarot, Geneviève Baujat, D. Bessis, O. Boccara, Maryse Bonnière, Odile Boute, A.‐C. Bursztejn, C. Chiavérini, Valérie Cormier‐Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Geneviève, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie‐Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jéléna Martinovic, A. Maruani, Michèle Mathieu‐Dramard, J. Mazereeuw‐Hautier, Caroline Michot, Cyril Mignot, J. Miquel, Fanny Morice‐Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloès, Marie Vincent, Catherine Vincent‐Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphné Lehalle, Julien Thévenon, Christel Thauvin‐Robinet, S. Hadj‐Rabia, Laurence Faivre, P. Vabres, Jean-Baptiste Rivière

    منشور في 2017
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  9. 9
    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita حسب Annie Laquerrière, Dana Jaber, Emanuela Abiusi, Jérôme Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loïc Quevarec, Flora Nolent, Valérie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloès, Bettina Bessières, Laurence Lœuillet, Tania Attié‐Bitach, Jéléna Martinovic, Sophie Blesson, Florence Petit, Claire Bénéteau, Sandra Whalen, Florent Marguet, Jérôme Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre‐Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne‐Lise Delezoide, Alice Goldenberg, Marie‐Line Jacquemont, Laëtitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Münnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, P. Landrieu, Pascaline Létard, Fanny Pelluard, Laurence Perrin, Marie‐Hélène Saint‐Frison, Haluk Topaloğlu, Laetitia Trestard, Catherine Vincent‐Delorme, Helge Amthor, Christine Barnérias, Alexandra Benachi, Éric Bieth, Elise Boucher, Valérie Cormier‐Daire, Andrée Delahaye‐Duriez, Isabelle Desguerre, B. Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin–Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quēlin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Hélène Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet‐Bianco, Michèle Granier, R Grigorescu, Julien Saada, Marie Gonzalès, Anne Guiochon‐Mantel, Jean‐Louis Bessereau, Marcel Tawk, Marta Gut, Cyril Gitiaux, Judith Melki

    منشور في 2021
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: