Resultados de procura - Bruno Maranda

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  1. 1
    Intra-endosomal pH-sensitive Recruitment of the Arf-nucleotide Exchange Factor ARNO and Arf6 from Cytoplasm to Proximal Tubule Endosomes

    Intra-endosomal pH-sensitive Recruitment of the Arf-nucleotide Exchange Factor ARNO and Arf6 from Cytoplasm to Proximal Tubule Endosomes por Bruno Maranda, Dennis Brown, Sylvain Bourgoin, James E. Casanova, Patrick Vinay, Dennis A. Ausiello, Vladimir Marshansky

    Publicado 2001
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  2. 2
    Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations

    Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations por Takuji Suzuki, Bruno Maranda, Takuro Sakagami, Priscilla Catellier, Christian-Yves Couture, Brenna Carey, Claudia Chalk, Bruce C. Trapnell

    Publicado 2010
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  3. 3
    Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

    Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing por Sébastien Levesque, Christiane Auray‐Blais, Elaine Gravel, Michel Boutin, Laura Dempsey-Nunez, Pierre‐Étienne Jacques, Sébastien Chénier, Sandrine Larue, Marie‐France Rioux, Walla Al‐Hertani, Amélie Nadeau, Jean Mathieu, Bruno Maranda, Valérie Désilets, Paula J. Waters, Joan Keutzer, Stephanie Austin, Priya S. Kishnani

    Publicado 2016
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  4. 4
    Exome sequencing identifies mutations in the gene<i>TTC7A</i>in French-Canadian cases with hereditary multiple intestinal atresia

    Exome sequencing identifies mutations in the gene<i>TTC7A</i>in French-Canadian cases with hereditary multiple intestinal atresia por Mark E. Samuels, Jacek Majewski, Najmeh Alirezaie, Isabel Fernández, Ferrán Casals, Natalie Patey, Hélène Decaluwe, Isabelle Gosselin, Élie Haddad, Alan Hodgkinson, Youssef Idaghdour, Valérie Marchand, Jacques L. Michaud, Marc‐André Rodrigue, Sylvie Desjardins, Stéphane Dubois, Françoise Le Deist, Philip Awadalla, Vincent Raymond, Bruno Maranda

    Publicado 2013
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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 por 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

    Publicado 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 por 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

    Publicado 2012
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  7. 7
    Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

    Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness por Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José‐Mario Capo‐Chichi, Nathalie Boddaert, Jean‐Claude Décarie, Bruno Maranda, Rima Nabbout, Michel Sylvain, Anne Lortie, Philippe P. Roux, Elsa Rossignol, Xavier Gérard, Giulia Barcia, Patrick Berquin, Arnold Münnich, Guy A. Rouleau, Josseline Kaplan, Jean‐Michel Rozet, Jacques L. Michaud

    Publicado 2014
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  8. 8
    Molecular and clinical genetics of mitochondrial diseases due to<i>POLG</i>mutations

    Molecular and clinical genetics of mitochondrial diseases due to<i>POLG</i>mutations por Lee-Jun Wong, Robert K. Naviaux, Nicola Brunetti‐Pierri, Qing Zhang, Eric Schmitt, Cavatina K. Truong, Margherita Milone, Bruce H. Cohen, Beverly Wical, Jaya Ganesh, Alice Basinger, Barbara K. Burton, Kathryn J. Swoboda, Donald L. Gilbert, Adeline Vanderver, Russell P. Saneto, Bruno Maranda, Georgianne Arnold, José E. Abdenur, Paula J. Waters, William C. Copeland

    Publicado 2008
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  9. 9
    Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy

    Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy por Shaalee Dworski, Ping Lu, Anzalee Khan, Bruno Maranda, John J. Mitchell, Rossella Parini, Maja Di Rocco, Boris Hügle, Makoto Yoshimitsu, Bo Magnusson, Balahan Makay, Nur Arslan, Norberto Guelbert, Karoline Ehlert, Andrea Jarisch, Janet Gardner‐Medwin, Rawane Dagher, Maria Teresa Terreri, Charles Marques Lorenco, Lilianna Barillas-Arias, Pranoot Tanpaiboon, Alexander Sólyom, James S. Norris, Xingxuan He, Edward H. Schuchman, Thierry Levade, Jeffrey A. Medin

    Publicado 2016
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  10. 10
    Retinal lipid and glucose metabolism dictates angiogenesis through the lipid sensor Ffar1

    Retinal lipid and glucose metabolism dictates angiogenesis through the lipid sensor Ffar1 por Jean‐Sébastien Joyal, Ye Sun, Marin L. Gantner, Zhuo Shao, Lucy Evans, Nicholas Saba, Thomas Fredrick, Samuel Burnim, Jin Sung Kim, Gauri Patel, Aimee M. Juan, Christian G. Hurst, Colman J. Hatton, Zhenghao Cui, Kerry A. Pierce, Patrick Bhérer, Edith Aguilar, Michael B. Powner, Kristis Vevis, Michel Boisvert, Zhongjie Fu, Émile Lévy, Marcus Fruttiger, Alan B. Packard, Flávio Rezende, Bruno Maranda, Przemysław Sapieha, Jing Chen, Martin Friedlander, Clary B. Clish, Lois E.H. Smith

    Publicado 2016
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  11. 11
    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 por 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

    Publicado 2011
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  12. 12
    Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

    Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring por Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo, Georg Christoph Korenke, Saadet Mercimek‐Mahmutoglu, Iris Marquart, Bruce A. Barshop, Christiane Grolik, Andrea Schlune, Brad Angle, Helena Caldeira, Turgay Coşkun, Luísa Diogo, Michael T. Geraghty, Göknur Haliloğlu, Vassiliki Konstantopoulou, Vincenzo Leuzzi, Alina Levtova, Jennifer MacKenzie, Bruno Maranda, Aizeddin A. Mhanni, Grant A. Mitchell, Andrew A. M. Morris, Theresa Newlove, Deborah L. Renaud, Fernando Scaglia, Vassili Valayannopoulos, Francjan J. van Spronsen, K. T. Verbruggen, Nataliya Yuskiv, William L. Nyhan, Andreas Schulze

    Publicado 2013
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  13. 13
    Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

    Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 por Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica E. Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionne‐Laporte, Luis H. Ospina, Emmanuelle Lemyre, Christine Massicotte, Rachel Laframboise, Bruno Maranda, Damian Labuda, Jean‐Claude Décarie, Françoise Rypens, Dorith Goldsher, Catherine Fallet‐Bianco, Jean‐François Soucy, Anne‐Marie Laberge, Catalina Maftei, Kym M. Boycott, Bernard Brais, Renée‐Myriam Boucher, Guy A. Rouleau, Nicholas Katsanis, Jacek Majewski, Orly Elpeleg, Mary K. Kukolich, Stavit A. Shalev, Jacques L. Michaud

    Publicado 2015
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  14. 14
    A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

    A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome por Julie Legault, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Chantale Aubut, Gabrielle Boucher, Clary B. Clish, Denis Cyr, Caroline Daneault, Paula J. Waters, Luc Vachon, Charles Morin, Catherine Laprise, John D. Rioux, Vamsi K. Mootha, Christine Des Rosiers, Azadeh Aliskashani, Bruce G. Allen, Chantale Aubut, Claudine Beauchamp, Chantal Bémeur, Yan Burelle, Guy Charron, Lise Coderre, Christine Des Rosiers, Sonia Deschênes, F. Labarthe, Jeannine Landry, Catherine Laprise, Geneviève Lavallée, Pierre Lavoie, Bruno Maranda, Charles Morin, Yvette Mukaneza, Tamiko Nishimura, John D. Rioux, Marie-Ève Rivard, Florin Sasarman, Eric A. Shoubridge, Jessica Tardif, Julie Legault, Nancy Tremblay, Vanessa Tremblay-Vaillancourt, Luc Vachon, Josée Villeneuve

    Publicado 2015
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