Výsledky vyhledávání - Stephen C. Groft

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  1. 1
    Rare Diseases Research

    Rare Diseases Research Autor Stephen C. Groft

    Vydáno 2013
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  2. 2
    The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network

    The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network Autor Peter A. Merkel, Michele Manion, Rashmi Gopal-Srivastava, Stephen C. Groft, Hyder A. Jinnah, David L. Robertson, Jeffrey P. Krischer

    Vydáno 2016
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  3. 3
    Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

    Therapies for rare diseases: therapeutic modalities, progress and challenges ahead Autor Erik Tambuyzer, Benjamin Vandendriessche, Christopher P. Austin, Philip J. Brooks, Kristina Larsson, Katherine I. Miller Needleman, James Valentine, Kay E. Davies, Stephen C. Groft, Robert A. Preti, Tudor I. Oprea, Marco Prunotto

    Vydáno 2019
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  4. 4
    The need for worldwide policy and action plans for rare diseases

    The need for worldwide policy and action plans for rare diseases Autor John Forman, Domenica Taruscio, Virginia A. Llera, Luis A. Barrera, Timothy R. Coté, Catarina Edfjäll, Desirée Gavhed, Marlene E. Haffner, Yukiko Nishimura, Manuel Posada de la Paz, Erik Tambuyzer, Stephen C. Groft, Jan‐Inge Henter

    Vydáno 2012
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  5. 5
    Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

    Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB) Autor Yaffa Rubinstein, Stephen C. Groft, Ronald Bartek, Kyle Brown, Ronald Christensen, Elaine Collier, Amy Farber, Jennifer Farmer, John H. Ferguson, Christopher B. Forrest, Nicole C. Lockhart, Kate R. McCurdy, Helen Moore, Geraldine B. Pollen, Rachel Richesson, Vanessa Rangel Miller, Sara Chandros Hull, Jim Vaught

    Vydáno 2010
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  6. 6
    Global health for rare diseases through primary care

    Global health for rare diseases through primary care Autor Gareth Baynam, Adam L. Hartman, Mary Catherine V. Letinturier, Matt Bolz-Johnson, Prescilla Carrion, Alice Chen Grady, Xinran Dong, Marc Dooms, Lauren Dreyer, Holm Graeßner, Alı́cia Granados, Tudor Groza, Elisa J. F. Houwink, Saumya Shekhar Jamuar, Tania Vásquez‐Loarte, Birutė Tumienė, Samuel Agyei Wiafe, Heidi Bjornson-Pennell, Stephen C. Groft

    Vydáno 2024
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  7. 7
    Inherited Arrhythmias

    Inherited Arrhythmias Autor Stephan E. Lehnart, Michael J. Ackerman, D. Woodrow Benson, Ramón Brugada, Colleen E. Clancy, J. Kevin Donahue, Alfred L. George, Augustus O. Grant, Stephen C. Groft, Craig T. January, David A. Lathrop, W. Jonathan Lederer, Jonathan C. Makielski, Peter J. Mohler, Arthur J. Moss, Jeanne M. Nerbonne, Timothy M. Olson, Dennis A. Przywara, Jeffrey A. Towbin, Lan-Hsiang Wang, Andrew R. Marks

    Vydáno 2007
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  8. 8
    The case for open science: rare diseases

    The case for open science: rare diseases Autor Yaffa Rubinstein, Peter N. Robinson, William A. Gahl, Paul Avillach, Gareth Baynam, Helene Cederroth, Rebecca Goodwin, Stephen C. Groft, Mats Hansson, Nomi L. Harris, Vojtech Huser, Deborah Mascalzoni, Julie A. McMurry, Matthew Might, Christoffer Nellåker, Barend Mons, Dina N. Paltoo, Jonathan Pevsner, Manuel Posada de la Paz, Alison P Rockett-Frase, Marco Roos, Tamar B. Rubinstein, Domenica Taruscio, David van Enckevort, Melissa Haendel

    Vydáno 2020
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  9. 9
    Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

    Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International Autor Domenica Taruscio, Marco Salvatore, Aimé Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen C. Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco‐de la Paz, Vajira H. W. Dissanayake, Roberto Giugliani, Claudia Gonzaga‐Jauregui, D. Hettiarachchi, Oleg Kvlividze, Guida Landouré, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel Agyei Wiafe, Olaf A. Bodamer, Manuel Posada de la Paz

    Vydáno 2023
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  10. 10
    A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

    A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions Autor Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L. Cellai, Gianluca Ferrari, Aimé Lumaka, Stephen C. Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco‐de la Paz, Vajira H. W. Dissanayake, Roberto Giugliani, Claudia Gonzaga‐Jauregui, D. Hettiarachchi, Oleg Kvlividze, Guida Landouré, Prince Makay, Béla Melegh, Ugur Ozbek, Karaman Pagava, Ratna Dua Puri, Victor Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel Agyei Wiafe, Olaf A. Bodamer, Manuel Posada de la Paz, Domenica Taruscio

    Vydáno 2025
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  11. 11
    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases Autor 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

    Vydáno 2017
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  12. 12
    Phenylketonuria Scientific Review Conference: State of the science and future research needs

    Phenylketonuria Scientific Review Conference: State of the science and future research needs Autor Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta, Gerard T. Berry, Deborah A. Bilder, Nenad Blau, Olaf A. Bodamer, Jeffrey P. Brosco, Christine Brown, Alberto Burlina, Barbara K. Burton, Christine Chang, Paul M. Coates, Amy Cunningham, Steven F. Dobrowolski, John H. Ferguson, Thomas D. Franklin, Dianne M. Frazier, Dorothy K. Grange, Carol L. Greene, Stephen C. Groft, Cary O. Harding, R. Rodney Howell, Kathleen Huntington, Henrietta D. Hyatt-Knorr, Indira Jevaji, Harvey L. Levy, Uta Lichter‐Konecki, Mary Lou Lindegren, Michele A. Lloyd-Puryear, Kimberlee Michals Matalon, Anita MacDonald, Melissa L McPheeters, John J. Mitchell, Shideh Mofidi, Kathryn Moseley, Christine M. Mueller, Andrew E. Mulberg, Lata S. Nerurkar, Beth Ogata, Anne Pariser, Suyash Prasad, Gabriella Pridjian, Sonja A. Rasmussen, Uma M. Reddy, Frances Rohr, Rani H. Singh, Sandra Sirrs, Stephanie E. Stremer, Danilo A. Tagle, Susan Thompson, Tiina K. Urv, Jeanine Utz, Francjan van Spronsen, Jerry Vockley, Susan E. Waisbren, Linda S. Weglicki, Desirée A. White, Chester B. Whitley, Benjamin S. Wilfond, Steven Yannicelli, Justin M. Young

    Vydáno 2014
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