অনুসন্ধান ফলাফলগুলি - Alice Goldenberg

ফলাফল পরিমার্জন করুন
  1. 1
    Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

    Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene অনুযায়ী Pascale Saugier‐Veber, Florent Marguet, François Lecoquierre, Homa Adle‐Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, M. Brasseur‐Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  2. 2
    Identification of Novel Craniofacial Regulatory Domains Located far Upstream of<i>SOX9</i>and Disrupted in Pierre Robin Sequence

    Identification of Novel Craniofacial Regulatory Domains Located far Upstream of<i>SOX9</i>and Disrupted in Pierre Robin Sequence অনুযায়ী Christopher T. Gordon, Catia Attanasio, Shipra Bhatia, Sabina Benko, Morad Ansari, Tiong Yang Tan, Arnold Münnich, L Pennacchio, Véronique Abadie, I. Karen Temple, Alice Goldenberg, Veronica van Heyningen, Jeanne Amiel, David Fitzpatrick, Dirk A. Kleinjan, Axel Visel, Stanislas Lyonnet

    প্রকাশিত 2014
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  3. 3
    Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

    Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis অনুযায়ী Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline Klein, Esther Kinning, Anne‐Marie Guerrot, Philippe Flahaut, A. Duncombe, Geneviève Baujat, Stanislas Lyonnet, Caroline Thalassinos, Patrick Nitschké, Jean‐Laurent Casanova, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire

    প্রকাশিত 2012
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  4. 4
    Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

    Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans অনুযায়ী Loïc de Pontual, Evelyn Yao, Patrick Callier, Laurence Faivre, Valérie Drouin, Sandra Cariou, Arie van Haeringen, David Geneviève, Alice Goldenberg, Myriam Oufadem, Sylvie Manouvrier, Arnold Münnich, Joana A. Vidigal, Michel Vekemans, Stanislas Lyonnet, Alexandra Henrion‐Caude, Andrea Ventura, Jeanne Amiel

    প্রকাশিত 2011
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  5. 5
    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 অনুযায়ী 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

    প্রকাশিত 2007
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  6. 6
    Natural history of Barth syndrome: a national cohort study of 22 patients

    Natural history of Barth syndrome: a national cohort study of 22 patients অনুযায়ী Charlotte Rigaud, Anne-Sophie Lèbre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, A. Chabli, Hélène Ansquer, Hülya Özşahin, Sylvie Di Filippo, Pascale de Lonlay, Betina Borm, François Rivier, Marie-Catherine Vaillant, Michèle Mathieu‐Dramard, Alice Goldenberg, Géraldine Viot, Philippe Charron, Marlène Rio, Damien Bonnet, Jean Donadieu

    প্রকাশিত 2013
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  7. 7
    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce... অনুযায়ী Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati‐Bonneau, Agnès Guichet, M. Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, Jean Pierre Kerckaert, Véronique David, Sylvie Manouvrier‐Hanu, Pascale Saugier‐Veber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, Dominique Bonneau

    প্রকাশিত 2009
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  8. 8
    Penetrance, variable expressivity and monogenic neurodevelopmental disorders

    Penetrance, variable expressivity and monogenic neurodevelopmental disorders অনুযায়ী Servane de Masfrand, Benjamin Cogné, Mathilde Nizon, Wallid Deb, Alice Goldenberg, François Lecoquierre, Gaël Nicolas, Marie Bournez, Antonio Vitobello, Frédéric Tran Mau‐Them, Gwenaël Le Guyader, Frédéric Bilan, Peter Bauer, Christiane Zweier, Juliette Piard, Laurent Pasquier, Stéphane Bézieau, Bénédicte Gérard, Laurence Faivre, Pascale Saugier‐Veber, Amélie Piton, Bertrand Isidor

    প্রকাশিত 2024
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  9. 9
    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>) অনুযায়ী Karine Poirier, David A. Keays, Fiona Francis, Yoann Saillour, Nadia Bahi, Sylvie Manouvrier, Catherine Fallet‐Bianco, Laurent Pasquier, Annick Toutain, Françoise Phan Dinh Tuy, Thierry Bienvenu, Sylvie Joriot, Sylvie Odent, Dorothée Ville, Isabelle Desguerre, Alice Goldenberg, Marie‐Laure Moutard, Jean‐Pierre Fryns, Hilde Van Esch, Victoria L. Harvey, Christian Siebold, Jonathan Flint, Chérif Beldjord, Jamel Chelly

    প্রকাশিত 2007
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  10. 10
    Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

    Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation অনুযায়ী Maud Jordan, Virginie Carmignac, Arthur Sorlin, Paul Kuentz, Juliette Albuisson, Luca Borradori, E. Bourrat, Odile Boute, Nenad Bukvić, A.‐C. Bursztejn, C. Chiavérini, Bruno Delobel, Marine Fournet, Jehanne Martel, Alice Goldenberg, S. Hadj‐Rabia, A. Mahé, A. Maruani, J. Mazereeuw‐Hautier, Cyril Mignot, Fanny Morice‐Picard, Marie‐Laure Moutard, Florence Petit, Justine Pasteur, Alice Phan, Sandra Whalen, Marjolaine Willems, Christophe Philippe, P. Vabres

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Carta
    তালিকাভুক্ত করুন
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  11. 11
    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease অনুযায়ী Jean Muller, Corinne Stoetzel, M. C. Vincent, Carmen C. Leitch, Virginie Laurier, Jean Marc Danse, Sophie Hellé, Vincent Marion, V Bennouna-Greene, Serge Vicaire, André Mégarbané, Josseline Kaplan, Valérie Drouin‐Garraud, M. Hamdani, Sabine Sigaudy, Christine Francannet, J. Roume, Pierre Bitoun, Alice Goldenberg, N. Philip, Sylvie Odent, J. Green, Mireille Cossée, Erica E. Davis, Nicholas Katsanis, Dominique Bonneau, Alain Verloès, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus

    প্রকাশিত 2010
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  12. 12
    Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

    Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation অনুযায়ী Audrey Guilmatre, Christèle Dubourg, A.L. Mosca, Solenn Legallic, Alice Goldenberg, Valérie Drouin‐Garraud, Valérie Layet, Antoine Rosier, Sylvain Briault, Frédérique Bonnet‐Brilhault, Frédéric Laumonnier, Sylvie Odent, G. Le Vacon, Géraldine Joly‐Helas, Véronique David, Claude Bendavid, Jean‐Michel Pinoit, Céline Henry, Caterina Impallomeni, Eva Germanò, Gaetano Tortorella, Gabriella Di Rosa, Catherine Barthélémy, Christian Andrés, Laurence Faivre, Thierry Frébourg, Pascale Saugier‐Veber, Dominique Campion

    প্রকাশিত 2009
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Revisão
    তালিকাভুক্ত করুন
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  13. 13
    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 অনুযায়ী Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau‐Them, Eric Richard, Alice Goldenberg, Tomi L. Toler, Thomas Guignard, Vincent Gâtinois, Marie Vincent, Catherine Blanchet, Anne Boland, Marie Thérèse Bihoreau, Jean‐François Deleuze, Robert Olaso, Walton Nephi, Hermann‐Josef Lüdecke, Joanne Verheij, Florence Moreau-Lenoir, Françoise Denoyelle, Jean‐Baptiste Rivière, Jean Laplanche, Marcia Willing, Guillaume Captier, Florence Apparailly, Dagmar Wieczorek, Corinne Collet, Farida Djouad, David Geneviève

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  14. 14
    A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

    A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability অনুযায়ী Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet, Alice Goldenberg, Céline Henry, Nadège Gigot, Emilie Pallesi‐Pocachard, Antonio Falace, Laurence Duplomb, Julien Thévenon, Yannis Duffourd, Judith St‐Onge, Pascal Chambon, Jean‐Baptiste Rivière, Christel Thauvin‐Robinet, Patrick Callier, Nathalie Marle, Muriel Payet, Clémence Ragon, Hany Goubran Botros, Julien Buratti, Sophie Caldérari, Guillaume Dumas, Richard Delorme, Nathalie Lagarde, Jean‐Michel Pinoit, Antoine Rosier, Alice Masurel‐Paulet, Carlos Cardoso, Francine Mugneret, Pascale Saugier‐Veber, Dominique Campion, Laurence Faivre, Thomas Bourgeron

    প্রকাশিত 2015
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  15. 15
    Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

    Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients অনুযায়ী Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean‐Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute‐Bénéjean, Roseline Caumes, Christine Decaestecker, Dominique Gaillard, Alice Goldenberg, Marie Gonzalès, Muriel Holder‐Espinasse, Marie‐Line Jacquemont, Didier Lacombe, Sylvie Manouvrier‐Hanu, Sandrine Marlin, Michèle Mathieu‐Dramard, G Morin, Laurent Pasquier, Florence Petit, Marlène Rio, Robert Śmigiel, Christel Thauvin‐Robinet, Alexandre Vasiljevic, Alain Verloès, Valérie Malan, Arnold Münnich, Loïc de Pontual, Michel Vekemans, Stanislas Lyonnet, Tania Attié‐Bitach, Jeanne Amiel

    প্রকাশিত 2014
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  16. 16
    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectode... অনুযায়ী Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Flora Bréhéret, Eva Trochu, Solène Conrad, Marie Vincent, Wallid Deb, X. Balguérie, S. Barbarot, Geneviève Baujat, Tawfeg Ben‐Omran, A.‐C. Bursztejn, Virginie Carmignac, Alexandre Datta, A. Delignières, Laurence Faivre, Betty Gardie, Jean‐Louis Guéant, Paul Kuentz, Marion Lenglet, Marie‐Cécile Nassogne, V. Ramaekers, Rhonda E. Schnur, Yue Si, Erin Torti, Julien Thévenon, P. Vabres, Lionel Van Maldergem, Dorothea Wand, Arnaud Wiedemann, Bertrand Cariou, Richard Redon, Antonin Lamazière, Stéphane Bézieau, François Feillet, Bertrand Isidor

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  17. 17
    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features অনুযায়ী Cara Skraban, Constance Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, Ping Yee Billie Au, Amber Begtrup, John Bernat, Lynne M. Bird, Kajia Cao, Arjan P.M. de Brouwer, Elizabeth Denenberg, Ganka Douglas, Kristin McDonald Gibson, Katheryn Grand, Alice Goldenberg, A. Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David Markie, Martina Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire Turner, Nienke E. Verbeek, Laurence E. Walsh, Taylor Warner, Patricia G. Wheeler, Dagmar Wieczorek, Alisha Wilkens, Evelien Zonneveld‐Huijssoon, Tjitske Kleefstra, Stephen P. Robertson, Avni Santani, Koen L.I. van Gassen, Matthew A. Deardorff

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  18. 18
    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands অনুযায়ী Aude Rocatcher, Valérie Desquiret‐Dumas, Majida Charif, Marc Ferré, Philippe Gohier, Delphine Mirebeau‐Prunier, Christophe Verny, Dan Miléa, Guy Lenaers, Catherine Vignal, Cédric Lamirel, Rabih Hage, Hélène Dollfus, Isabelle Meunier, Xavier Zanlonghi, Valérie Touitou, Pierre Lebranchu, Sylvie Odent, Caroline Froment Tilikete, L. Jeanjean, Sabine Defoort‐Dhellemmes, Isabelle Drumare-Bouvet, Vasily Smirnov, Catherine Vincent-Delorme, Damien Biotti, Fanny Varenne, Patrick Calvas, Nicolas Chassaing, Mikaël Cohen, Christophe Orssaud, Fanny Mochel, Agathe Roubertie, Annick Toutain, Frédéric Pollet-Villard, Marie Noelle Bonnet Dupeyron, Céline Boulicot, Béatrice Cochener, Alice Goldenberg, Marie Line Jacquemont, Christine Francannet, Dominique Bonneau, Pascal Reynier, Patrizia Amati‐Bonneau

    প্রকাশিত 2022
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  19. 19
    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing অনুযায়ী Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel‐Paulet, Marjolaine Willems, Gaëtan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie‐Ange Delrue, Valérie Drouin‐Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu‐Dramard, Dominique Martin–Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin‐Robinet, Julien Thévenon, Martine Doco‐Fenzy, David Geneviève, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean‐Louis Mandel, Amélie Piton

    প্রকাশিত 2014
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  20. 20
    Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

    Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome অনুযায়ী Marine Legendre, Véronique Abadie, Tania Attié‐Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin–Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre‐Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent‐Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu‐Dramard, Marie‐Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quēlin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne‐Marie Guerrot, Massimiliano Rossi, Alice Masurel‐Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez‐Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert‐Dussardier

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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