المؤلفون: Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J. Buske, Laurie S. Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G. Nielsen, Anne R. Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Rare diseases, Clinical research networks, Interoperability, Patient unmet needs, Diagnosis, Therapies, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c9ca331354bc45bb934c597b9e06fa26

المؤلفون: Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio

المصدر: Frontiers in Public Health, Vol 11 (2023)

مصطلحات موضوعية: undiagnosed diseases, developing nations, rare diseases, survey, GPD, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpubh.2023.1248260/full; https://doaj.org/toc/2296-2565

URL الوصول: https://doaj.org/article/da71af76c6954864ad49d713a5a8c259

المؤلفون: Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada

المصدر: Frontiers in Public Health, Vol 11 (2023)

مصطلحات موضوعية: Undiagnosed Diseases, rare diseases, developing nations, data sharing, survey, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpubh.2023.1079601/full; https://doaj.org/toc/2296-2565

URL الوصول: https://doaj.org/article/2227df40187d4d7eabf002601c80d926

المؤلفون: William A. Gahl, Durhane Wong-Rieger, Virginie Hivert, Rachel Yang, Galliano Zanello, Stephen Groft

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/edd9fc3abd424996abdd1da439d5eefa

المؤلفون: Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)

مصطلحات موضوعية: Diagnosis, Genomics, Phenomics, Undiagnosed, Diagnostic odyssey, Clinical best practice, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0619-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/fd1d44fbca064efaae5bfc0d962bda6b

المؤلفون: William A. Gahl (169534), Durhane Wong-Rieger (11129401), Virginie Hivert (4321030), Rachel Yang (3049074), Galliano Zanello (353620), Stephen Groft (3999893)

مصطلحات موضوعية: Medicine, Genetics, Pharmacology, Biotechnology, Immunology, Marine Biology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, FDA, patient advocacy groups, drug treatment options, NMPA, Disease Treatment Access Working Gr., disease patients, EMA, Diseases Research Consortium, health care providers, Rare Disease Treatment Access Worki.

Relation: https://figshare.com/articles/dataset/Additional_file_1_of_Essential_list_of_medicinal_products_for_rare_diseases_recommendations_from_the_IRDiRC_Rare_Disease_Treatment_Access_Working_Group/14978062

الاتاحة: https://doi.org/10.6084/m9.figshare.14978062.v1

المؤلفون: Michael E. Mendelsohn, Takateru Izumi, Russell Ross, Margaret Wu, Jeffrey E. DeClue, Mark Majesky, Martha Vaughan, Victor J. Ferrans, Pauline M. Barnes, Joseph P. Lynch, Douglas B. Flieder, Rex C. Yung, Anne E. Tattersfield, Gerald J. Beck, Nilo A. Avila, Kateri Gabriele, Mary Ehrmantraut, Elbert P. Trulock, Barry L. Fanburg, Joel Moss, Anil Menon, Suzanne Oparil, Jean-François Cordier, Marilyn K. Glassberg, William D. Travis, Kurt R. Stenmark, Marco W T Schreurs, Peter B. O'Donovan, Eugene J. Sullivan, Clara C. Chen, Shan Chu, Mark D. Schluchter, Carol E. Vreim, Stephen Groft

المصدر: American Journal of Respiratory and Critical Care Medicine. 159:679-683

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Lymphangioleiomyomatosis, medicine, Critical Care and Intensive Care Medicine, medicine.disease, business, Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ce090e788b4b19f2dcdf05c003fa1938
https://doi.org/10.1164/ajrccm.159.2.9803107

المؤلفون: Stephen Groft, Marysia Shudy, Carol Nicholson, Susan Ly, Tammara L. Jenkins, Mary Lihinie de Almeida, Christopher Landon

المصدر: Pediatrics. 118

مصطلحات موضوعية: Gerontology, Adult, Coping (psychology), Adolescent, Critical Illness, Psychological intervention, Poison control, Intensive Care Units, Pediatric, Social support, Cost of Illness, Professional-Family Relations, Injury prevention, Adaptation, Psychological, Medicine, Humans, Child, business.industry, Social environment, Infant, Social Support, United States, Causality, Systematic review, Child, Preschool, Pediatrics, Perinatology and Child Health, Needs assessment, Wounds and Injuries, Family Relations, business, Needs Assessment, Stress, Psychological, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3f78b45091583aaaa8f17e58da64c40
https://pubmed.ncbi.nlm.nih.gov/17142557

المؤلفون: Richard C. Dart, Stephen W. Borron, E. Martin Caravati, Daniel J. Cobaugh, Steven C. Curry, Jay L. Falk, Lewis Goldfrank, Susan E. Gorman, Stephen Groft, Kennon Heard, Ken Miller, Kent R. Olson, Gerald O'Malley, Donna Seger, Steven A. Seifert, Marco L.A. Sivilotti, Tammi Schaeffer, Anthony J. Tomassoni, Robert Wise, Gregory M. Bogdan, Mohammed Alhelail, Jennie Buchanan, Jason Hoppe, Eric Lavonas, Sara Mlynarchek, Dong-Haur Phua, Sean Rhyee, Shawn Varney, Amy Zosel

المصدر: Annals of Emergency Medicine. 54:386-394.e1

مصطلحات موضوعية: medicine.medical_specialty, Evidence-Based Medicine, business.industry, Drug Storage, Antidotes, Evidence-based medicine, Pediatric critical care medicine, medicine.disease, Drug Utilization, Health administration, Pediatric emergency medicine, Intensive care, Medical toxicology, Emergency Medicine, medicine, Emergency medical services, Humans, book.journal, Medical emergency, Hospital pharmacy, Emergency Service, Hospital, Pharmacy Service, Hospital, Intensive care medicine, business, book

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b589b1ef7140a9d0cdd9f3577c0e377
https://doi.org/10.1016/j.annemergmed.2009.01.023