Ngā hua rapu - Stephen C. Groft

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  1. 1
    Rare Diseases Research

    Rare Diseases Research mā Stephen C. Groft

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Peter A. Merkel, Michele Manion, Rashmi Gopal-Srivastava, Stephen C. Groft, Hyder A. Jinnah, David L. Robertson, Jeffrey P. Krischer

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Revisão
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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 mā 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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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) mā 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

    I whakaputaina 2010
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Global health for rare diseases through primary care

    Global health for rare diseases through primary care mā 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

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Inherited Arrhythmias

    Inherited Arrhythmias mā 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

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    The case for open science: rare diseases

    The case for open science: rare diseases mā 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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa
    Revisão
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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 mā 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

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Artigo
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