Rezultati - Ana Rath

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  1. 1
    Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding

    Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding od Ségolène Aymé, Bertrand Bellet, Ana Rath

    Izdano 2015
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  2. 2
    Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

    Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users od Ana Rath, Annie Olry, Ferdinand Dhombres, Maja Miličić Brandt, Bruno Urbero, Ségolène Aymé

    Izdano 2012
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  3. 3
    Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

    Clinical Practice Guidelines for Rare Diseases: The Orphanet Database od Sonia Pavan, Kathrin Rommel, María Elena Mateo Marquina, Sophie Höhn, Valérie Serrière-Lanneau, Ana Rath

    Izdano 2017
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  4. 4
    Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

    Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database od Stéphanie Nguengang Wakap, Deborah Lambert, Annie Olry, Charlotte Rodwell, Charlotte Gueydan, Valérie Serrière-Lanneau, Daniel N. Murphy, Yann Le Cam, Ana Rath

    Izdano 2019
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  5. 5
    The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

    The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort od C. E. Walker, Trinity Mahede, Geoff Davis, Laura Miller, Jennifer Girschik, Kate Brameld, Wenxing Sun, Ana Rath, Ségolène Aymé, Stephen R. Zubrick, Gareth Baynam, Caron Molster, Hugh Dawkins, Tarun Weeramanthri

    Izdano 2016
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  6. 6
    Barriers to the conduct of randomised clinical trials within all disease areas

    Barriers to the conduct of randomised clinical trials within all disease areas od Snezana Djurisic, Ana Rath, Sabrina Gaber, Silvio Garattini, Vittorio Bertelè, Sandra-Nadia Ngwabyt, Virginie Hivert, Edmund Neugebauer, Martine Laville, M. Hiesmayr, Jacques Demotes‐Mainard, Christine Kubiak, Janus Christian Jakobsen, Christian Gluud

    Izdano 2017
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  7. 7
    The importance of international collaboration for rare diseases research: a European perspective

    The importance of international collaboration for rare diseases research: a European perspective od Daria Julkowska, Christopher P. Austin, Christine M. Cutillo, David Gancberg, Connie M. Hager, Juliane Halftermeyer, Anneliene Hechtelt Jonker, Lilian Pek Lian Lau, Iréne Norstedt, Ana Rath, Roseanne C. Schuster, E Simelyte, Salima van Weely

    Izdano 2017
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  8. 8
    Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective

    Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective od Hugh Dawkins, Ruxandra Draghia‐Akli, Paul Lasko, Lilian Pek Lian Lau, Anneliene Hechtelt Jonker, Christine M. Cutillo, Ana Rath, Kym M. Boycott, Gareth Baynam, Hanns Lochmüller, Petra Kaufmann, Yann Le Cam, Virginie Hivert, Christopher P. Austin

    Izdano 2017
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  9. 9
    Evidence-based clinical practice: Overview of threats to the validity of evidence and how to minimise them

    Evidence-based clinical practice: Overview of threats to the validity of evidence and how to minimise them od Silvio Garattini, Janus Christian Jakobsen, Jørn Wetterslev, Vittorio Bertelè, Rita Banzi, Ana Rath, Edmund Neugebauer, Martine Laville, Yvonne Masson, Virginie Hivert, Michaela Eikermann, Burç Aydın, Sandra Ngwabyt, Cecília Martinho, Chiara Gerardi, Cezary Szmigielski, Jacques Demotes‐Mainard, Christian Gluud

    Izdano 2016
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  10. 10
    Specific barriers to the conduct of randomised clinical trials on medical devices

    Specific barriers to the conduct of randomised clinical trials on medical devices od Edmund Neugebauer, Ana Rath, Sunya-Lee Antoine, Michaela Eikermann, Doerthe Seidel, Carsten Koenen, Esther Jacobs, Dawid Pieper, Martine Laville, Séverine Pitel, Cecília Martinho, Snezana Djurisic, Jacques Demotes‐Mainard, Christine Kubiak, Vittorio Bertelè, Janus Christian Jakobsen, Silvio Garattini, Christian Gluud

    Izdano 2017
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  11. 11
    Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases

    Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases od Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron Molster, Lucía Monaco, Carmencita D. Padilla, Anne Pariser, Peter N. Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber, Flaminia Macchia

    Izdano 2024
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  12. 12
    How many rare diseases are there?

    How many rare diseases are there? od Melissa Haendel, Nicole Vasilevsky, Deepak Unni, Cristian Bologa, Nomi L. Harris, Heidi L. Rehm, Ada Hamosh, Gareth Baynam, Tudor Groza, Julie A. McMurry, Hugh Dawkins, Ana Rath, Courtney Thaxton, Giovanni Bocci, Marcin P. Joachimiak, Sebastian Köhler, Peter N. Robinson, Chris Mungall, Tudor I. Oprea

    Izdano 2019
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  13. 13
    Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

    Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective od Christopher P. Austin, Christine M. Cutillo, Lilian Pek Lian Lau, Anneliene Hechtelt Jonker, Ana Rath, Daria Julkowska, David Thomson, Sharon F. Terry, Béatrice de Montleau, Diego Ardigò, Virginie Hivert, Kym M. Boycott, Gareth Baynam, Petra Kaufmann, Domenica Taruscio, Hanns Lochmüller, Makoto Suematsu, Carlo Incerti, Ruxandra Draghia‐Akli, Iréne Norstedt, Lu Wang, Hugh Dawkins

    Izdano 2017
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  14. 14
    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases od Kym M. Boycott, Ana Rath, Jessica X. Chong, Taila Hartley, Fowzan S. Alkuraya, Gareth Baynam, Anthony J. Brookes, Michael Brudno, Ángel Carracedo, Johan T. den Dunnen, Stephanie O. M. Dyke, Xavier Estivill, Jack Goldblatt, Catherine Gonthier, Stephen C. Groft, Marta Gut, Ada Hamosh, Philip Hieter, Sophie Höhn, Matthew E. Hurles, Petra Kaufmann, Bartha Maria Knoppers, Jeffrey P. Krischer, Milan Maçek, Gert Matthijs, Annie Olry, Samantha Parker, Justin Paschall, Anthony Philippakis, Heidi L. Rehm, Peter N. Robinson, Pak C. Sham, Румен Стефанов, Domenica Taruscio, Divya Unni, Megan R. Vanstone, Feng Zhang, Han G. Brunner, Michael J. Bamshad, Hanns Lochmüller

    Izdano 2017
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  15. 15
    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources od Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin‐Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew E. Hurles, S. E. A. Leigh, Ivone Leong, Sateesh Maddirevula, Christa Lese Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, Thabo M. Yates, Heidi L. Rehm

    Izdano 2022
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  16. 16
    The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

    The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases od Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo, Carles Hernández-Ferrer, Cristina Luengo, Anastasios Papakonstantinou, Joan Protassio, Inés Martínez, Daniel Picó, Rachel Thompson, Raúl Tonda, Mónica Bayés, Gemma Bullich, Jordi Camps, Ida Paramonov, Jean-Rémi Trotta, Ángel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros‐Facer, Orion J. Buske, Andrés Cañada, José M. Fernández, Mats Hansson, Rita Horváth, Julius O.B. Jacobsen, Rajaram Kaliyaperumal, Séverine Lair, Luana Licata, Pedro Lopes, Estrella López‐Martín, Deborah Mascalzoni, Lucía Monaco, Luis Pérez Jurado, Manuel Posada de la Paz, Jordi Rambla, Ana Rath, Olaf Rieß, Peter N. Robinson, Damian Smedley, Dylan Spalding, Peter A.C. ‘t Hoen, Ana Töpf, Irina Zaharieva, Holm Graeßner, Marta Gut, Hanns Lochmüller, Sergi Beltrán

    Izdano 2022
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  17. 17
    The Human Phenotype Ontology in 2021

    The Human Phenotype Ontology in 2021 od Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, Leigh Carmody, David Lewis‐Smith, Nicole Vasilevsky, Daniel Daniš, Ganna Balagura, Gareth Baynam, Amy Brower, Tiffany J Callahan, Christopher G. Chute, Johanna L Est, Peter D. Galer, Shiva Ganesan, Matthias Griese, Matthias Haimel, Júlia Pázmándi, Marc Hanauer, Nomi L. Harris, M. J. Hartnett, Maximilian Hastreiter, Fabian Hauck, Yongqun He, Tim Jeske, Hugh Kearney, Gerhard Kindle, Christoph Klein, Katrin Knoflach, Roland Krause, David Lagorce, Julie A. McMurry, Jillian A. Miller, Monica Muñoz‐Torres, Rebecca L. Peters, Christina Rapp, Ana Rath, Shahmir A Rind, Avi Z. Rosenberg, Michael M. Segal, Markus G. Seidel, Damian Smedley, Tomer Talmy, Yarlalu Thomas, Samuel Agyei Wiafe, Julie Xian, Zafer Yüksel, Ingo Helbig, Chris Mungall, Melissa Haendel, Peter N. Robinson

    Izdano 2020
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  18. 18
    The Human Phenotype Ontology in 2017

    The Human Phenotype Ontology in 2017 od Sebastian Köhler, Nicole Vasilevsky, Mark Engelstad, Erin D. Foster, Julie A. McMurry, Ségolène Aymé, Gareth Baynam, Susan M. Bello, Cornelius F. Boerkoel, Kym M. Boycott, Michael Brudno, Orion J. Buske, Patrick F. Chinnery, Valentina Cipriani, Laureen E. Connell, Hugh Dawkins, Laura E. DeMare, A. Devereau, Bert B.A. de Vries, Helen V. Firth, Kathleen Freson, Daniel Greene, Ada Hamosh, Ingo Helbig, Courtney Hum, Johanna Jähn, Roger James, Roland Krause, Stanley J. F. Laulederkind, Hanns Lochmüller, Gholson J. Lyon, Soichi Ogishima, Annie Olry, Willem H. Ouwehand, Nikolas Pontikos, Ana Rath, Franz Schaefer, Richard H. Scott, Michael M. Segal, Panagiotis I. Sergouniotis, Richard Sever, Cynthia L. Smith, Volker Straub, Rachel Thompson, C. Turner, Ernest Turro, Marijcke W. M. Veltman, Tom Vulliamy, Jing Yu, Julie von Ziegenweidt, Andreas Zankl, Stephan Züchner, Tomasz Żemojtel, Julius O.B. Jacobsen, Tudor Groza, Damian Smedley, Chris Mungall, Melissa Haendel, Peter N. Robinson

    Izdano 2016
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  19. 19
    Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

    Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources od Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O.B. Jacobsen, Daniel Daniš, Jean-Philippe F. Gourdine, Michael Gargano, Nomi L. Harris, Nicolas Matentzoglu, Julie A. McMurry, David Osumi-Sutherland, Valentina Cipriani, James P. Balhoff, Tom Conlin, Hannah Blau, Gareth Baynam, R. Palmer, Dylan Gratian, Hugh Dawkins, Michael M. Segal, Anna Jansen, Ahmed Muaz, Willie Chang, Jenna Bergerson, Stanley J. F. Laulederkind, Zafer Yüksel, Sergi Beltrán, Alexandra F. Freeman, Panagiotis I. Sergouniotis, Daniel W. Durkin, Andrea L. Storm, Marc Hanauer, Michael Brudno, Susan M. Bello, Murat Sincan, Kayli Rageth, Matthew T. Wheeler, Renske Oegema, Halima Lourghi, Maria G. Della Rocca, Rachel Thompson, F Castellanos, James R. Priest, Charlotte Cunningham‐Rundles, Ayushi Hegde, Ruth C. Lovering, Catherine Hajek, Annie Olry, Luigi D. Notarangelo, Morgan Similuk, Xingmin Zhang, David Gómez‐Andrés, Hanns Lochmüller, Hélène Dollfus, Sergio D. Rosenzweig, Shruti Marwaha, Ana Rath, Kathleen E. Sullivan, Cynthia L. Smith, Joshua D. Milner, Dorothée Leroux, Cornelius F. Boerkoel, Amy D. Klion, Melody C. Carter, Tudor Groza, Damian Smedley, Melissa Haendel, Chris Mungall, Peter N. Robinson

    Izdano 2018
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  20. 20
    Mondo: Unifying diseases for the world, by the world

    Mondo: Unifying diseases for the world, by the world od Nicole Vasilevsky, Nicolas Matentzoglu, Sabrina Toro, Joseph Eugene Flack, Harshad Hegde, Deepak Unni, Gioconda Alyea, Joanna Amberger, Lawrence Babb, James P. Balhoff, Taylor I. Bingaman, Gully Burns, Orion J. Buske, Tiffany J Callahan, Leigh Carmody, Paula Carrio-Cordo, Lauren Chan, George S Chang, S. Christiaens, Michel Dumontier, Laura Failla, May J Flowers, H. Alpha Garrett, Jennifer Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L. Harris, Jason A. Hilton, Daniel Himmelstein, Charles Tapley Hoyt, Megan Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna Maglott, Adriana J Malheiro, Birgit Meldal, Monica Muñoz‐Torres, Tristan Nelson, F. W. Nicholas, David Ochoa, Daniel Olson, Tudor I. Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L. Rehm, Lyubov Remennik, Erin Rooney Riggs, Paola Roncaglia, Justyne Ross, Marion Shadbolt, Kent Shefchek, Morgan Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L. Storm, Doron Stupp, Gregory S. Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, D. K. C. Tay, Courtney Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H. Wagner, Danielle Welter, Patricia L. Whetzel, Lori Whiteman, Valerie Wood, Colleen H. Xu, Andreas Zankl, Xingmin Zhang, Christopher G. Chute, Peter N. Robinson, Chris Mungall, Ada Hamosh, Melissa Haendel

    Izdano 2022
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