Výsledky vyhledávání - Gabriela M. Repetto

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  1. 1
    Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis

    Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis Autor María Fernanda Rozas, Felipe Benavides, Luis León, Gabriela M. Repetto

    Vydáno 2019
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  2. 2
    Genetic structure characterization of Chileans reflects historical immigration patterns

    Genetic structure characterization of Chileans reflects historical immigration patterns Autor S. Eyheramendy, Felipe I. Martínez, Federico Manevy, Cecilia Vial, Gabriela M. Repetto

    Vydáno 2015
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  3. 3
    Pathogenesis of Preeclampsia: The Genetic Component

    Pathogenesis of Preeclampsia: The Genetic Component Autor Francisco Valenzuela, Alejandra Pérez‐Sepúlveda, Marı́a José Torres, Paula Corrêa, Gabriela M. Repetto, Sebastián E. Illanes

    Vydáno 2011
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  4. 4
    Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

    Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study Autor Gabriela M. Repetto, Maria Guzman, Iris Delgado, Hugo Loyola, Mirta Palomares, Guillermo Lay‐Son, Cecilia Vial, Felipe Benavides, Karena Espinoza, Patricia Álvarez

    Vydáno 2014
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  5. 5
    Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson’s disease

    Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson’s disease Autor Nancy J. Butcher, Connie Marras, Margarita Pondal, Pablo Rusjan, Erik Boot, Leigh Christopher, Gabriela M. Repetto, Rosemarie Fritsch, Eva W.C. Chow, Mario Masellis, Antonio P. Strafella, Anthony E. Lang, Anne S. Bassett

    Vydáno 2017
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  6. 6
    Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate

    Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate Autor Shunji Tomatsu, Tatiana Dieter, Ida Vanessa Döederlein Schwartz, Piedad Sarmient, Roberto Giugliani, Luis A. Barrera, Norberto Guelbert, Raquel Dodelson de Kremer, Gabriela M. Repetto, Mónica Gutiérrez, Tatsuo Nishioka, Olga Peña Serrato, Adriana M. Montaño, Seiji Yamaguchi, Akihiko Noguchi

    Vydáno 2004
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  7. 7
    The WHO genomics program of work for equitable implementation of human genomics for global health

    The WHO genomics program of work for equitable implementation of human genomics for global health Autor Elena Ambrosino, Ahmad Abou Tayoun, Marc Abramowicz, Bin Alwi Zilfalil, Tiffany Boughtwood, Yosr Hamdi, Tim Hubbard, Yoshihiro Kato, Íscia Lopes‐Cendes, Partha P. Majumder, Deborah Mascalzoni, Rokhaya Ndiaye, Michèle Ramsay, Gabriela M. Repetto, Vorasuk Shotelersuk, Sherry Taylor, John C. Reeder, Anna Laura Ross

    Vydáno 2024
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  8. 8
    Efficacy of gamification-based smartphone application for weight loss in overweight and obese adolescents: study protocol for a phase II randomized controlled trial

    Efficacy of gamification-based smartphone application for weight loss in overweight and obese adolescents: study protocol for a phase II randomized controlled trial Autor Patrick Timpel, Fernando Yue Cesena, Christiane da Silva Costa, Matheus Dorigatti Soldatelli, Emanuel Gois, Eduardo Castrillón, Lina Johana Jaime Díaz, Gabriela M. Repetto, Fanah Hagos, Raul E. Castillo Yermenos, Kevin Pacheco‐Barrios, Wafaa Musallam, Zilda Braid, Nesreen Khidir, Marcela Romo Guardado, Roberta Muriel Longo Roepke

    Vydáno 2018
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  9. 9
    Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

    Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations Autor Carla S. D’Angelo, Azure Hermes, Christopher R. McMaster, Elissa Prichep, Étienne Richer, Francois H. van der Westhuizen, Gabriela M. Repetto, Mengchun Gong, Helen Malherbe, Juergen Reichardt, Laura Arbour, Māui Hudson, Kelly du Plessis, Melissa Haendel, Phillip Wilcox, Sally Ann Lynch, Shamir Rind, Simon Easteal, Xavier Estivill, Yarlalu Thomas, Gareth Baynam

    Vydáno 2020
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  10. 10
    Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior

    Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior Autor Avanti Gokhale, Cortnie Hartwig, A. Freeman, Julia L. Bassell, Stephanie A. Zlatic, Christie Sapp Savas, Trishna Vadlamudi, Farida Abudulai, Tyler T. Pham, Amanda Crocker, Erica Werner, Zhexing Wen, Gabriela M. Repetto, Joseph A. Gogos, Steven M. Claypool, Jennifer K. Forsyth, Carrie E. Bearden, Jill R. Glausier, David A. Lewis, Nicholas T. Seyfried, Jennifer Q. Kwong, Victor Faúndez

    Vydáno 2019
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  11. 11
    Practical guidelines for managing adults with 22q11.2 deletion syndrome

    Practical guidelines for managing adults with 22q11.2 deletion syndrome Autor Wai Lun Alan Fung, Nancy J. Butcher, Gregory Costain, Danielle M. Andrade, Erik Boot, Eva W.C. Chow, Brian Hon‐Yin Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman, Sixto García‐Miñaúr, Susan R. George, Anthony E. Lang, Gabriela M. Repetto, Andrea Shugar, Candice Silversides, Ann Swillen, Thérèse van Amelsvoort, Donna M. McDonald‐McGinn, Anne S. Bassett

    Vydáno 2015
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  12. 12
    Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile

    Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile Autor M. Cecilia Poli, Boris Rebolledo‐Jaramillo, Catalina Lagos, Joan Orellana, Gabriela Moreno, Luz M. Martín, Gonzalo Encina, Daniela Böhme, Víctor Faúndes, María Zavala, Trinidad Hasbún, Sara Fischer, Florencia Brito, Diego Araya, Manuel Lira, Javiera de la Cruz, Camila Astudillo, Guillermo Lay‐Son, Carolina Cares, Mariana Aracena, Esteban San Martin, Zeynep Coban‐Akdemir, Jennifer E. Posey, James R. Lupski, Gabriela M. Repetto

    Vydáno 2024
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  13. 13
    Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

    Advancing diagnosis and research for rare genetic diseases in Indigenous peoples Autor Gareth Baynam, Daria Julkowska, Sarah Bowdin, Azure Hermes, Christopher R. McMaster, Elissa Prichep, Étienne Richer, Francois H. van der Westhuizen, Gabriela M. Repetto, Helen Malherbe, Juergen Reichardt, Laura Arbour, Māui Hudson, Kelly du Plessis, Melissa Haendel, Phillip Wilcox, Sally Ann Lynch, Shamir Rind, Simon Easteal, Xavier Estivill, Nadine R. Caron, Meck Chongo, Yarlalu Thomas, Mary Catherine V. Letinturier, Barend Christiaan Vorster

    Vydáno 2024
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  14. 14
    Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

    Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome Autor Erik Boot, Sólveig Óskarsdóttir, Joanne C. Y. Loo, T. Blaine Crowley, Ani Orchanian‐Cheff, Danielle M. Andrade, Jill M. Arganbright, René M. Castelein, Christine Cserti‐Gazdewich, Steven de Reuver, Ania Fiksinski, Gunilla Klingberg, Anthony E. Lang, Maria R. Mascarenhas, Edward Moss, Beata Nowakowska, Erwin Oechslin, Lisa D. Palmer, Gabriela M. Repetto, Nikolai Gil D. Reyes, Maude Schneider, Candice Silversides, Kathleen E. Sullivan, Ann Swillen, Thérèse van Amelsvoort, Jason Van Batavia, Claudia Vingerhoets, Donna M. McDonald‐McGinn, Anne S. Bassett

    Vydáno 2023
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  15. 15
    The genetic basis of DOORS syndrome: an exome-sequencing study

    The genetic basis of DOORS syndrome: an exome-sequencing study Autor Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, Lindsay C. Burrage, Choel Kim, Mutsuki Hori, Berkley R. Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende, Marzena Wiśniewska, Hülya Kayserili, Patrick Rump, Sheela Nampoothiri, Salim Aftimos, Antje Mey, Lal D V Nair, Michael L. Begleiter, Isabelle De Bie, Girish Meenakshi, Mitzi L. Murray, Gabriela M. Repetto, Mahin Golabi, Edward Blair, Alison Male, Fabienne Giuliano, Ariana Kariminejad, William G. Newman, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Bronwyn Kerr, Siddharth Banka, Jacques C. Giltay, Dagmar Wieczorek, Anna Tostevin, Joanna Wiszniewska, Sau Wai Cheung, Raoul C. M. Hennekam, Richard A. Gibbs, Brendan Lee, Sanjay M. Sisodiya

    Vydáno 2013
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  16. 16
    Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

    Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2 Autor Erik Boot, Nancy J. Butcher, Sean Udow, Connie Marras, Kin Y. Mok, Satoshi Kaneko, Matthew J. Barrett, Paolo Prontera, Brian D. Berman, Mario Masellis, Boris Dufournet, Karine Nguyen, Perrine Charles, Eugénie Mutez, Téodor Danaila, Aurélia Jacquette, Olivier Colin, Sophie Drapier, Michel Borg, Ania Fiksinski, Elfi Vergaelen, Ann Swillen, Annick Vogels, Annika Plate, Claudia Perandones, Thomas Gasser, Kristien Clerinx, Frédéric Bourdain, K.R. Mills, Nigel Williams, Nicholas Wood, Jan Booij, Anthony E. Lang, Anne S. Bassett, Nicola Tambasco, Gabriela M. Repetto, Rosemarie Fritsch, Barber M Tinselboer, Jacob Vorstman, Luis A. Pellene, Stephen G. Reich, Claudia Schulte, A. Dekker

    Vydáno 2018
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  17. 17
    Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

    Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome Autor R. W. Davies, Ania Fiksinski, Elemi Breetvelt, Nigel Williams, Stephen R. Hooper, Thomas Monfeuga, Anne S. Bassett, Michael J. Owen, Raquel E. Gur, Bernice E. Morrow, Donna M. McDonald‐McGinn, Ann Swillen, Eva W.C. Chow, Marianne B. M. van den Bree, Beverly S. Emanuel, Joris Vermeesch, Thérèse van Amelsvoort, Celso Arango, Marco Armando, Linda Campbell, Joseph F. Cubells, Stéphan Eliez, Sixto García‐Miñaúr, Doron Gothelf, Wendy R. Kates, Kieran C. Murphy, Clodagh M. Murphy, Declan Murphy, Nicole Philip, Gabriela M. Repetto, Vandana Shashi, Tony J. Simon, Damián Heine‐Suñer, Stefano Vicari, Stephen W. Scherer, Carrie E. Bearden, Jacob Vorstman

    Vydáno 2020
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  18. 18
    Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

    Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome Autor Sólveig Óskarsdóttir, Erik Boot, T. Blaine Crowley, Joanne C. Y. Loo, Jill M. Arganbright, Marco Armando, Adriane L. Baylis, Elemi Breetvelt, René M. Castelein, Madeline Chadehumbe, Christopher M. Cielo︎, Steven de Reuver, Stéphan Eliez, Ania Fiksinski, Brian J. Forbes, Emily R. Gallagher, Sarah Hopkins, Oksana A. Jackson, Lorraine Levitz-Katz, Gunilla Klingberg, Michele P. Lambert, Bruno Marino, Maria R. Mascarenhas, Julie S. Moldenhauer, Edward Moss, Beata Nowakowska, Ani Orchanian‐Cheff, Carolina Putotto, Gabriela M. Repetto, Erica Schindewolf, Maude Schneider, Cynthia Solot, Kathleen E. Sullivan, Ann Swillen, Marta Unolt, Jason Van Batavia, Claudia Vingerhoets, Jacob Vorstman, Anne S. Bassett, Donna M. McDonald‐McGinn

    Vydáno 2023
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  19. 19
    Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

    Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome Autor Anne S. Bassett, Chelsea Lowther, Daniele Merico, Gregory Costain, Eva W.C. Chow, Thérèse van Amelsvoort, Donna M. McDonald‐McGinn, Raquel E. Gur, Ann Swillen, Marianne B. M. van den Bree, Kieran C. Murphy, Doron Gothelf, Carrie E. Bearden, Stéphan Eliez, Wendy R. Kates, Nicole Philip, Vandana Sashi, Linda Campbell, Jacob Vorstman, Joseph F. Cubells, Gabriela M. Repetto, Tabassome Simon, Erik Boot, Tracy Heung, Rens Evers, Claudia Vingerhoets, Esther van Duin, Elaine H. Zackai, Elfi Vergaelen, Koenraad Devriendt, Joris Vermeesch, Michael J. Owen, Clodagh M. Murphy, Elena Michaelovosky, Leila Kushan, Maude Schneider, Wanda Fremont, Tiffany Busa, Stephen R. Hooper, Kathryn McCabe, Sasja N. Duijff, Keren Isaev, Giovanna Pellecchia, John Wei, Matthew J. Gazzellone, Stephen W. Scherer, Beverly S. Emanuel, Tingwei Guo, Bernice E. Morrow, Christian R. Marshall

    Vydáno 2017
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  20. 20
    <i>TBC1D24</i> genotype–phenotype correlation

    <i>TBC1D24</i> genotype–phenotype correlation Autor Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattéa J. Finelli, Patrik Verstreken, Aaron L. Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Gaëtan Lesca, Maria Margherita Mancardi, Anne Lise Poulat, Gabriela M. Repetto, Siddharth Banka, Leonilda Bilo, Laura E. Birkeland, Friedrich Bosch, Knut Brockmann, J. Helen Cross, Diane Doummar, Têmis Maria Félix, Fabienne Giuliano, Mutsuki Hori, Irina Hüning, Hulia Kayserili, Usha Kini, Melissa Lees, Girish Meenakshi, Leena Mewasingh, Alistair T. Pagnamenta, Silvio Peluso, Antje Mey, Gregory M. Rice, Jill A. Rosenfeld, Jenny C. Taylor, Matthew M. Troester, Christine M. Stanley, Dorothée Ville, Magdalena Walkiewicz, Antonio Falace, Anna Fassio, Johannes R. Lemke, Saskia Biskup, Jessica Tardif, Norbert Fonya Ajeawung, Aslıhan Tolun, Mark Corbett, Jozef Gécz, Zaid Afawi, Katherine B. Howell, Karen Oliver, Samuel F. Berkovic, Ingrid E. Scheffer, De Falco Fa, Peter L. Oliver, Pasquale Striano, Federico Zara, Philippe M. Campeau, Sanjay M. Sisodiya

    Vydáno 2016
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