Arama Sonuçları - Sylvia Dobrzeniecka

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  1. 1
    Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

    Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals Yazar: Amélie Piton, Loubna Jouan, Daniel Rochefort, Sylvia Dobrzeniecka, Karine Lachapelle, Patrick A. Dion, Julie Gauthier, Guy A. Rouleau

    Baskı/Yayın Bilgisi 2012
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  2. 2
    Intellectual disability without epilepsy associated with STXBP1 disruption

    Intellectual disability without epilepsy associated with STXBP1 disruption Yazar: Fadi F. Hamdan, Julie Gauthier, Sylvia Dobrzeniecka, Anne Lortie, Laurent Mottron, Michel Vanasse, Guy D’Anjou, Jean Claude Lacaille, Guy A. Rouleau, Jacques L. Michaud

    Baskı/Yayın Bilgisi 2011
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  3. 3
    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia Yazar: Myriam Srour, David Chitayat, Véronique Caron, Nicolas Chassaing, Pierre Bitoun, Lysanne Patry, Marie‐Pierre Cordier, José‐Mario Capo‐Chichi, Christine Francannet, Patrick Calvas, Nicola Ragge, Sylvia Dobrzeniecka, Fadi F. Hamdan, Guy A. Rouleau, André Tremblay, Jacques L. Michaud

    Baskı/Yayın Bilgisi 2013
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  4. 4
    De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

    De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment Yazar: Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort, Amélie Piton, Julie Gauthier, Mathieu Langlois, Gila Foomani, Sylvia Dobrzeniecka, Marie‐Odile Krebs, Ridha Joober, Ronald G. Lafrenière, Jean‐Claude Lacaille, Laurent Mottron, Pierre Drapeau, Miriam H. Beauchamp, Michael Phillips, Éric Fombonne, Guy A. Rouleau, Jacques L. Michaud

    Baskı/Yayın Bilgisi 2010
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  5. 5
    Mutations in<i>TMEM231</i>cause Joubert syndrome in French Canadians

    Mutations in<i>TMEM231</i>cause Joubert syndrome in French Canadians Yazar: Myriam Srour, Fadi F. Hamdan, Jeremy Schwartzentruber, Lysanne Patry, Luis H. Ospina, Michael Shevell, Valérie Désilets, Sylvia Dobrzeniecka, Géraldine Mathonnet, Emmanuelle Lemyre, Christine Massicotte, Damian Labuda, Dina Amrom, Eva Andermann, Guillaume Sébire, Bruno Maranda, FORGE Canada Consortium, Guy A. Rouleau, Jacek Majewski, Jacques L. Michaud

    Baskı/Yayın Bilgisi 2012
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  6. 6
    Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

    Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population Yazar: Myriam Srour, Jeremy Schwartzentruber, Fadi F. Hamdan, Luis H. Ospina, Lysanne Patry, Damian Labuda, Christine Massicotte, Sylvia Dobrzeniecka, José‐Mario Capo‐Chichi, Simon Papillon‐Cavanagh, Mark E. Samuels, Kym M. Boycott, Michael Shevell, Rachel Laframboise, Valérie Désilets, Bruno Maranda, Guy A. Rouleau, Jacek Majewski, Jacques L. Michaud

    Baskı/Yayın Bilgisi 2012
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  7. 7
    Mutations in<i>SYNGAP1</i>in Autosomal Nonsyndromic Mental Retardation

    Mutations in<i>SYNGAP1</i>in Autosomal Nonsyndromic Mental Retardation Yazar: Fadi F. Hamdan, Julie Gauthier, Dan Spiegelman, Anne Noreau, Yanlian Yang, Stéphanie Pellerin, Sylvia Dobrzeniecka, Mélanie Côté, Elizabeth Perreau-Linck, Lionel Carmant, Guy D’Anjou, Éric Fombonne, Anjené Addington, Judith L. Rapoport, Lynn E. DeLisi, Marie‐Odile Krebs, Fayçal Mouaffak, Ridha Joober, Laurent Mottron, Pierre Drapeau, Claude Marineau, Ronald G. Lafrenière, Jean Claude Lacaille, Guy A. Rouleau, Jacques L. Michaud

    Baskı/Yayın Bilgisi 2009
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  8. 8
    Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

    Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability Yazar: Fadi F. Hamdan, Julie Gauthier, Yoichi Araki, Da‐Ting Lin, Yuhki Yoshizawa, Kyohei Higashi, Areum Park, Dan Spiegelman, Sylvia Dobrzeniecka, Amélie Piton, Hideyuki Tomitori, Hussein Daoud, Christine Massicotte, Édouard Henrion, Ousmane Diallo, Masoud Shekarabi, Claude Marineau, Michael Shevell, Bruno Maranda, Grant A. Mitchell, Amélie Nadeau, Guy D’Anjou, Michel Vanasse, Myriam Srour, Ronald G. Lafrenière, Pierre Drapeau, Jean Claude Lacaille, Eunjoon Kim, Jae-Ran Lee, Kazuei Igarashi, Richard L. Huganir, Guy A. Rouleau, Jacques L. Michaud

    Baskı/Yayın Bilgisi 2011
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  9. 9
    Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

    Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Yazar: Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev, David Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yifan Lu, Xiaodi Yao, Fadi F. Hamdan, Kimberly Pelak, Haike Reznik‐Wolf, Ifat Bar-Joseph, Danit Oz-Levi, Dorit Lev, Tally Lerman‐Sagie, Esther Leshinsky‐Silver, Yair Anikster, Edna Ben‐Asher, Tsviya Olender, Laurence Colleaux, Jean‐Claude Décarie, Susan Blasér, Brenda Banwell, Rasesh B. Joshi, Xiao‐Ping He, Lysanne Patry, Rachel Silver, Sylvia Dobrzeniecka, Mohammad S. Islam, Abul Hasnat, Mark E. Samuels, Dipendra K. Aryal, Ramona M. Rodriguiz, Yong‐hui Jiang, William C. Wetsel, James O McNamara, Guy A. Rouleau, Debra L. Silver, Doron Lancet, Elon Pras, Grant A. Mitchell, Jacques L. Michaud, David B. Goldstein

    Baskı/Yayın Bilgisi 2013
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  10. 10
    High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies Yazar: Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre D. Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux‐Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T. Cho, Jill A. Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M. Regan, Kelly Mo, Cory Tam, Amy L. Schneider, Georgie Hollingsworth, David Fitzpatrick, Alan Donaldson, Natalie Canham, Edward Blair, Bronwyn Kerr, Andrew E. Fry, Rhys H. Thomas, Joss Shelagh, Jane A. Hurst, Helen Brittain, Moira Blyth, Robert Roger Lebel, Erica H. Gerkes, Laura Davis‐Keppen, Quinn Stein, Wendy K. Chung, Sara J. Dorison, Paul J. Benke, Emily Fassi, Nicole Corsten‐Janssen, Erik‐Jan Kamsteeg, Frédéric Tran Mau‐Them, Ange‐Line Bruel, Alain Verloès, Katrin Õunap, Monica H. Wojcik, Dara V.F. Albert, Sunita Venkateswaran, Tyson L. Ware, Dean Jones, Y. C. Liu, Shekeeb S. Mohammad, Peyman Bizargity, Carlos A. Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J. Wierenga, Gabriela Purcarin, James J. O’Byrne, Sylvia Stöckler, Anna Lehman, Boris Keren, Marie‐Christine Nouguès, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M. Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R. Lalani, Richard E. Frye, Imad T. Jarjour, Stéphanie Jacques, Renee-Myriam Boucher, Émilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D’Anjou, Guillaume Bourque, Samuel F. Berkovic, Lynette G. Sadleir, Philippe M. Campeau, Zoha Kibar, Ronald G. Lafrenière, Simon Girard, Saadet Mercimek‐Mahmutoglu, Cyrus Boelman, Guy A. Rouleau

    Baskı/Yayın Bilgisi 2017
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