Výsledky vyhledávání - Marta Bértoli

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  1. 1
    Influence of Refrigeration and Formalin on the Floatability of Giardia duodenalis Cysts

    Influence of Refrigeration and Formalin on the Floatability of Giardia duodenalis Cysts Autor Maria da Luz Ribeiro Moitinho, Marta Bértoli, Terezinha Aparecida Guedes, Cláudio Santos Ferreira

    Vydáno 1999
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  2. 2
    Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy

    Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy Autor Marta Bértoli, G. Biasini, M. T. Calignano, G. Celani, Georgio Grossi, M. Cristina Digilio, C. C. Fermariello, G. Loffredo, F. Luchino, Anna Marchese, Stefania Mazotti, B. Menghi, C. Razzano, C. Tiano, A. Zambon Hobart, Giuseppe Zampino, Giuseppe Zuccalà

    Vydáno 2011
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  3. 3
    Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

    Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy Autor Elizabeth Harris, Ana Töpf, Rita Barresi, Judith A. Hudson, Helen Powell, James O. Tellez, Debbie Hicks, Anna Porter, Marta Bértoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Þ. Magnússon, Monkol Lek, Daniel G. MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub

    Vydáno 2017
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  4. 4
    Identification of CANT1 Mutations in Desbuquois Dysplasia

    Identification of CANT1 Mutations in Desbuquois Dysplasia Autor Céline Huber, Bénédicte Oulès, Marta Bértoli, Mounia Chami, Mélanie Fradin, Yasemin Alanay, L.I. Al-Gazali, Margreet G.E.M. Ausems, Pierre Bitoun, Denise P. Cavalcanti, Alexander Krebs, Martine Le Merrer, Geert Mortier, Yousef Shafeghati, Andrea Superti‐Furga, Stephen P. Robertson, Carine Le Goff, Andrea Onetti Muda, Patrizia Paterlini-Bréchot, Arnold Münnich, Valérie Cormier‐Daire

    Vydáno 2009
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  5. 5
    ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

    ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service Autor Hannah McInnes‐Dean, Rhiannon Mellis, Morgan Daniel, Holly Walton, Emma L. Baple, Marta Bértoli, Jane Fisher, Katarzyna Gajewska‐Knapik, Muriel Holder‐Espinasse, Caroline Lafarge, Kerry Leeson‐Beevers, Alec McEwan, Pranav Pandya, Michael Parker, Sophie Peet, Lauren Roberts, Srividhya Sankaran, Audrey Smith, Dagmar Tapon, Wing Han Wu, Sarah L. Wynn, Lyn S. Chitty, Melissa Hill, Michelle Peter

    Vydáno 2024
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  6. 6
    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb... Autor Katherine Johnson, Marta Bértoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera‐Pruszczyk, Anna Potulska‐Chromik, Nicolas Deconinck, Carina Wallgren‐Pettersson, Sonja Strang‐Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández‐Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmuş, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub

    Vydáno 2018
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  7. 7
    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients Autor Philip J. Ostrowski, Anna Zachariou, Chey Loveday, Ana Beleza‐Meireles, Marta Bértoli, John Dean, Andrew G. L. Douglas, Ian O. Ellis, Alison Foster, John M. Graham, Jennifer Hague, Yvonne Hilhorst‐Hofstee, Mariëtte J.V. Hoffer, Diana Johnson, Dragana Josifova, Sarina G. Kant, Usha Kini, Katherine Lachlan, Wayne Lam, Melissa Lees, Sally Ann Lynch, Silvia Maitz, Shane McKee, Kay Metcalfe, Katherine L. Nathanson, Charlotte W. Ockeloen, Michael Parker, Tyler Mark Pierson, Elisa Rahikkala, Pedro A. Sanchez‐Lara, Alice Spano, Lionel Van Maldergem, Trevor Cole, Sofia Douzgou, Katrina Tatton‐Brown

    Vydáno 2019
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  8. 8
    International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy

    International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy Autor Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Hui Xiong, A. Nascimento, Lorenzo Maggi, Anna Sárközy, Soledad Monges, Marta Bértoli, Hirofumi Komaki, M. Mayer, Eugenio Mercuri, Edmar Zanoteli, Claudia Castiglioni, Chiara Marini‐Bettolo, Adele D’Amico, Nicolas Deconinck, Isabelle Desguerre, Ricardo Erazo-Torricelli, Juliana Gurgel‐Giannetti, Akihiko Ishiyama, Karin Kleinsteuber, Emmanuelle Lagrue, Vincent Laugel, Sandra Mercier, Sonia Messina, Luisa Politano, Monique M. Ryan, Pascal Sabouraud, Ulrike Schara, Gabriele Siciliano, Liliana Vercelli, Thomas Voit, Grace Yoon, Rachel Alvarez, Francesco Muntoni, Tyler Mark Pierson, David Gómez‐Andrés, A. Reghan Foley, Susana Quijano‐Roy, Carsten G. Bönnemann, Gisèle Bonne

    Vydáno 2021
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  9. 9
    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update Autor Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bértoli, Tiffany Busa, Berten Ceulemans, Julie Désir, Martine Doco‐Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Kasole Lubala, Michèle Mathieu‐Dramard, Hélène Maurey, Julia Métreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier-Ringenbach, Massimiliano Rossi, Élise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin‐Crépon, Corinne Alberti, Monique Elmaleh, Brigitte Benzacken, Bernd Wollnick, C. Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressèns, Alain Verloès, Sandrine Passemard

    Vydáno 2017
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  10. 10
    Rare disease gene association discovery in the 100,000 Genomes Project

    Rare disease gene association discovery in the 100,000 Genomes Project Autor Valentina Cipriani, Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr, Katherine A. Benson, Marta Bértoli, Detlef Böckenhauer, Michael R. Bowl, Kate Burley, Li Chan, Patrick F. Chinnery, Peter J. Conlon, Marcos Abreu Costa, Alice E. Davidson, Sally J. Dawson, Elhussein A. Elhassan, Sarah E. Flanagan, Marta Futema, Daniel P. Gale, Sonia García-Ruiz, M. Cecilia Gonzalez Corcia, Helen Griffin, Sophie Hambleton, Amy R. Hicks, Henry Houlden, Richard S. Houlston, Sarah Howles, Robert Kleta, Iris Lekkerkerker, Siying Lin, Petra Lišková, Hannah M. Mitchison, Heba Morsy, Andrew Mumford, William G. Newman, Ruxandra Neatu, Edel A. O’Toole, Albert Ong, Alistair T. Pagnamenta, Shamima Rahman, Neil Rajan, Peter N. Robinson, Mina Ryten, Omid Sadeghi‐Alavijeh, John A. Sayer, Claire L. Shovlin, Jenny C. Taylor, Omri Teltsh, Ian Tomlinson, Arianna Tucci, Clare Turnbull, Albertien M. van Eerde, James S. Ware, Laura Watts, Andrew R. Webster, Sarah K. Westbury, Sean L. Zheng, Mark J. Caulfield, Damian Smedley

    Vydáno 2025
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  11. 11
    A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

    A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders Autor Ilenia Simeoni, Jonathan Stephens, Fengyuan Hu, Sri V. V. Deevi, Karyn Mégy, Tadbir K. Bariana, Claire Lentaigne, Sol Schulman, Suthesh Sivapalaratnam, Minka J. A. Vries, Sarah K. Westbury, Daniel Greene, Sofia Papadia, Marie‐Christine Alessi, Antony Attwood, Matthias Ballmaier, Gareth Baynam, Emilsé Bermejo, Marta Bértoli, Paul F. Bray, Loredana Bury, Marco Cattaneo, Peter Collins, Louise C. Daugherty, Rémi Favier, Deborah L. French, Bruce Furie, Michael Gattens, Manuela Germeshausen, Cédric Ghevaert, Anne Goodeve, José A. Guerrero, Daniel J. Hampshire, Daniel P. Hart, Johan W. M. Heemskerk, Yvonne Henskens, Marian Hill, Nancy Hogg, Jennifer D. Jolley, Walter H.A. Kahr, Anne M. Kelly, Ron Kerr, Myrto Kostadima, Shinji Kunishima, Michele P. Lambert, Ri Liesner, José A. López, Rutendo Mapeta, Mary Mathias, Carolyn M. Millar, Amit Nathwani, Marguerite Neerman‐Arbez, Alan T. Nurden, Paquita Nurden, Maha Othman, Kathelijne Peerlinck, David J. Perry, Pawan Poudel, Pieter H. Reitsma, Matthew T. Rondina, Peter A. Smethurst, William Stevenson, Artur Szkotak, Salih Tuna, Chris Van Geet, Deborah Whitehorn, David A. Wilcox, Bin Zhang, Shoshana Revel‐Vilk, Paolo Gresele, Daniel B. Bellissimo, Christopher J. Penkett, Michael Laffan, Andrew Mumford, Augusto Rendon, Keith Gomez, Kathleen Freson, Willem H. Ouwehand, Ernest Turro

    Vydáno 2016
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  12. 12
    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness Autor Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina England, Kristen M. Laricchia, T. Mullen, Elise Valkanas, Liwen Xu, Marta Bértoli, A. Blain, Ana Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso‐Pérez, Jonathan Baets, Nina Barišić, Alexandra Bastian, S. Borell, Teodora Chamova, Kristl G. Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem De Ridder, Jordi Díaz‐Manera, Cristina Domínguez‐González, Alexis E. Duncan, Hacer Durmuş, Nagia Fahmy, Maria Elena Farrugia, Roberto Fernández‐Torrón, Lídia González-Quereda, Jana Haberlová, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, I. Jericó Pascual, Solange Kapetanovic, Viktorija Ķēniņa, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera‐Pruszczyk, R. Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munaín, Wolfgang N. Löscher, Anna Łusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, A. Nascimento, Shahriar Nafissi, Shirin Jamal Omidi, C. Ortez, Stéphanie Paquay, Yann Péréon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, I Sánchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang‐Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan J. Vílchez, Katharina Vill, John Vissing, Carina Wallgren‐Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub

    Vydáno 2020
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