Resultados da busca - Fadi F. Hamdan

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  1. 1
    High-Throughput Screening of G Protein-Coupled Receptor Antagonists Using a Bioluminescence Resonance Energy Transfer 1-Based β-Arrestin2 Recruitment Assay

    High-Throughput Screening of G Protein-Coupled Receptor Antagonists Using a Bioluminescence Resonance Energy Transfer 1-Based β-Arrestin2 Recruitment Assay por Fadi F. Hamdan, Martin Audet, Philippe Garneau, Jerry Pelletier, Michel Bouvier

    Publicado em 2005
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  2. 2
    Conformational Changes That Occur during M3Muscarinic Acetylcholine Receptor Activation Probed by the Use of an in Situ Disulfide Cross-linking Strategy

    Conformational Changes That Occur during M3Muscarinic Acetylcholine Receptor Activation Probed by the Use of an in Situ Disulfide Cross-linking Strategy por Stuart D.C. Ward, Fadi F. Hamdan, Lanh M. Bloodworth, Jürgen Wess

    Publicado em 2002
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  3. 3
    A Gain-of-Function Mutation in<i>NALCN</i>in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

    A Gain-of-Function Mutation in<i>NALCN</i>in a Child with Intellectual Disability, Ataxia, and Arthrogryposis por Kyota Aoyagi, Elsa Rossignol, Fadi F. Hamdan, Ben Mulcahy, Lin Xie, Shinya Nagamatsu, Guy A. Rouleau, Mei Zhen, Jacques L. Michaud

    Publicado em 2015
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  4. 4
    A homozygous mutation in <i><scp>SLC1A4</scp></i> in siblings with severe intellectual disability and microcephaly

    A homozygous mutation in <i><scp>SLC1A4</scp></i> in siblings with severe intellectual disability and microcephaly por Myriam Srour, Fadi F. Hamdan, Ziv Gan‐Or, D. Labuda, Christina Nassif, Maryam Oskoui, Mali Gana‐Weisz, Avi Orr‐Urtreger, Guy A. Rouleau, Jacques L. Michaud

    Publicado em 2015
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  5. 5
    Intellectual disability without epilepsy associated with STXBP1 disruption

    Intellectual disability without epilepsy associated with STXBP1 disruption por 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

    Publicado em 2011
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  6. 6
    A critical role for β cell M3 muscarinic acetylcholine receptors in regulating insulin release and blood glucose homeostasis in vivo

    A critical role for β cell M3 muscarinic acetylcholine receptors in regulating insulin release and blood glucose homeostasis in vivo por Dinesh Gautam, Sung‐Jun Han, Fadi F. Hamdan, Jongrye Jeon, Bo Li, Jian Hua Li, Yinghong Cui, David Mears, Huiyan Lü, Chu‐Xia Deng, Thomas S. Heard, Jürgen Wess

    Publicado em 2006
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  7. 7
    The genetic landscape of infantile spasms

    The genetic landscape of infantile spasms por Jacques L. Michaud, Mathieu Lachance, Fadi F. Hamdan, Lionel Carmant, Anne Lortie, Paola Diadori, Philippe Major, Inge A. Meijer, Emmanuelle Lemyre, Patrick Cossette, Heather C. Mefford, Guy A. Rouleau, Elsa Rossignol

    Publicado em 2014
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  8. 8
    A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

    A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders por Anjené Addington, J Gauthier, Amélie Piton, Fadi F. Hamdan, A Raymond, Nitin Gogtay, Rachel Miller, Julia W. Tossell, Jennifer L. Bakalar, G Germain, Peter Gochman, R Long, Judith L. Rapoport, Guy A. Rouleau

    Publicado em 2010
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  9. 9
    Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome

    Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome por José‐Mario Capo‐Chichi, Sanjay Kumar Bharti, Joshua A. Sommers, Tony Yammine, Éliane Chouery, Lysanne Patry, Guy A. Rouleau, Mark Samuels, Fadi F. Hamdan, Jacques L. Michaud, Robert Brosh, André Mégarbané, Zoha Kibar

    Publicado em 2012
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  10. 10
    De novo variants in sporadic cases of childhood onset schizophrenia

    De novo variants in sporadic cases of childhood onset schizophrenia por Amirthagowri Ambalavanan, Simon Girard, Kwangmi Ahn, Sirui Zhou, Alexandre Dionne‐Laporte, Dan Spiegelman, Cynthia V. Bourassa, Julie Gauthier, Fadi F. Hamdan, Lan Xiong, Patrick A. Dion, Ridha Joober, Judith L. Rapoport, Guy A. Rouleau

    Publicado em 2015
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  11. 11
    A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

    A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome por Julie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F. Hamdan, Steven M. Harrison, Linda A. Baker, Françoise Couture, Isabelle Thiffault, Réda Ouazzani, Mark E. Samuels, Grant A. Mitchell, Guy A. Rouleau, Jacques L. Michaud, J.‐F. Soucy

    Publicado em 2014
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  12. 12
    M <sub>3</sub> -muscarinic receptor promotes insulin release via receptor phosphorylation/arrestin-dependent activation of protein kinase D1

    M <sub>3</sub> -muscarinic receptor promotes insulin release via receptor phosphorylation/arrestin-dependent activation of protein kinase D1 por Kok Choi Kong, Adrian J. Butcher, Phillip McWilliams, David Jones, Jürgen Wess, Fadi F. Hamdan, Tim D. Werry, Elizabeth M. Rosethorne, Steven J. Charlton, Sarah E. Munson, Hannah A. Cragg, Alison D. Smart, Andrew B. Tobin

    Publicado em 2010
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  13. 13
    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 por 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

    Publicado em 2013
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  14. 14
    Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function

    Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function por Martin H. Berryer, Bidisha Chattopadhyaya, Paul Xing, Ilse Riebe, Ciprian M. Bosoi, Nathalie T. Sanon, Judith Antoine‐Bertrand, Maxime Lévesque, Massimo Avoli, Fadi F. Hamdan, Lionel Carmant, Nathalie Lamarche‐Vane, Jean‐Claude Lacaille, Jacques L. Michaud, Graziella Di Cristo

    Publicado em 2016
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  15. 15
    De Novo Mutations in Moderate or Severe Intellectual Disability

    De Novo Mutations in Moderate or Severe Intellectual Disability por Fadi F. Hamdan, Myriam Srour, José‐Mario Capo‐Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo, Édouard Henrion, Alexandre Dionne‐Laporte, Anne Fougerat, Alexey V. Pshezhetsky, Sunita Venkateswaran, Guy A. Rouleau, Jacques L. Michaud

    Publicado em 2014
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  16. 16
    FHF1 (FGF12) epileptic encephalopathy

    FHF1 (FGF12) epileptic encephalopathy por Sameer Al‐Mehmadi, Miranda Splitt, Venkateswaran Ramesh, Suzanne D. DeBrosse, Kimberly Dessoffy, Fan Xia, Yaping Yang, Jill A. Rosenfeld, Patrick Cossette, Jacques L. Michaud, Fadi F. Hamdan, Philippe M. Campeau, Berge A. Minassian, Jeffrey C. Barrett, Matthew E. Hurles

    Publicado em 2016
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  17. 17
    Global characterization of copy number variants in epilepsy patients from whole genome sequencing

    Global characterization of copy number variants in epilepsy patients from whole genome sequencing por Jean Monlong, Simon Girard, Caroline Meloche, Maxime Cadieux‐Dion, Danielle M. Andrade, Ron G. Lafrenière, Micheline Gravel, Dan Spiegelman, Alexandre Dionne‐Laporte, Cyrus Boelman, Fadi F. Hamdan, Jacques L. Michaud, Guy A. Rouleau, Berge A. Minassian, Guillaume Bourque, Patrick Cossette

    Publicado em 2018
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  18. 18
    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 por 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

    Publicado em 2010
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  19. 19
    Mutations in the calcium-related gene IL1RAPL1 are associated with autism

    Mutations in the calcium-related gene IL1RAPL1 are associated with autism por Amélie Piton, Jacques L. Michaud, Boon‐Peng Hoh, Swaroop Aradhya, J Gauthier, Laurent Mottron, Nathalie Champagne, Ronald G. Lafrenière, Fadi F. Hamdan, Ridha Joober, Éric Fombonne, Claude Marineau, Patrick Cossette, Marie‐Pierre Dubé, Parviz Haghighi, Pierre Drapeau, Philip A. Barker, S. Carbonetto, Guy A. Rouleau

    Publicado em 2008
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  20. 20
    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 em 2012
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