المؤلفون: Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Health service use, Costs, Ataxia, Specialist centre, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/73a4cd848505400d97c064c0db95d331Test

المؤلفون: Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris, Paola Giunti

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

مصطلحات موضوعية: Ataxia, Specialist centre, Care pathway, Patient survey, Rare diseases, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/e065d538ca3d4f04a022a5f8a436d69dTest

المؤلفون: Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P. Adam, Christina Hung, Olaf A. Bodamer

المصدر: Genes, Vol 13, Iss 10, p 1761 (2022)

مصطلحات موضوعية: Kabuki syndrome, Niikawa–Kuroki syndrome, transcription, KMT2D, KDM6A, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/10/1761Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/a1103e11d8e14b2f9d27a99fca059002Test

المؤلفون: Steve Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d94021ebce1f2b7878346d0f58788b89Test
https://doi.org/10.21203/rs.3.rs-2718607/v1Test

المؤلفون: Deborah Hoffman, Christina Theodore-Oklota, Deborah S. Hartman, Hans T. Bjornsson

المصدر: Advances in Therapy

مصطلحات موضوعية: Adolescent, media_common.quotation_subject, Population, Disease, Adolescents, Quality of life (healthcare), Perception, medicine, Humans, Pharmacology (medical), Abnormalities, Multiple, education, Survey, media_common, Original Research, Humanistic burden, education.field_of_study, Kabuki syndrome, business.industry, Perspective (graphical), General Medicine, medicine.disease, Hematologic Diseases, Patient research, United States, Caregivers, Vestibular Diseases, Face, Patient burden, Quality of Life, business, Psychosocial, Qualitative research, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f344a80dd9d3a07926421e340a0822Test
http://europepmc.org/articles/PMC8799562Test

المؤلفون: Jose G. Romano, Hannah Gardener, Eric E. Smith, Iszet Campo-Bustillo, Yosef Khan, Sofie Tai, Nikesha Riley, Ralph L. Sacco, Pooja Khatri, Heather M. Alger, Brian Mac Grory, Deepak Gulati, Navdeep S. Sangha, Karin E. Olds, Curtis G. Benesch, Adam G. Kelly, Scott S. Brehaut, Amit C. Kansara, Lee H. Schwamm, Scott Moody, Weiping Ye, Vena Sobhawongse, Jeffrey M. Craig, Heloisa Pearson, Deborah Summers, Christine Boerman, Christy Rice, Robin Kintner, Mayumi Oka, Sarah Baran, Christina Roels, Maureen Dosunmu, Cherylee W. J. Chang, Jennifer Moran, Denise Ditrich, Nicholas Lanciano, Aimee Mann, Charles E. Romero, Becky Thiele, David Salvatore, Annette Taylor, Neel Shah, Rodney Leacock, Angel Rochester, Fanny Guillerminet, Jerry C. Martin, Johnny Jones, Nicol Brandon, Vikas Grover, Maryika Gibson, Maheen Malik, Carol Mechem, William R. Logan, Camilla Cook, Muhib A Khan, Christa Rood, Arun Babu, Leah Steinig, Jestin Carlson, Melanie Henderson, Gabriel Vidal, Bethany Jennings, Jennifer Lynch, Jessica Ratcliff, Kathryn Kirchoff, Khadean Moncrieffe, Jennifer Rasmussen-Winkler, Leigh Allen, Gary Thompson, Christopher Firek, Stephen Martino, Baher Georgy, Gillian L. Gordon-Perue, Nina Vekima, Kasey Gildersleeve, Marian Skewes, Christina Valdovinos, Timothy C. Parsons, Cynthia Marques, John W. Chen, David Lombardi, Brenda Perez, Amer Malik, Kathy Hesse, Amy Guzik, Sandra E. Norona, Robert Hoesch, Jacki Anderson, Dorothea Altschul, Farah Fermin, Miran Salgado, Jonathan Muller, Indrani Acosta, Brooke Hartwell, Terry A. Neill, Carrie Hundley, Abhineet Chowdhary, Tina Fortney, Jose Rafael Romero, Brandon Finn, Refat Assad, Maggie Ellithorpe, Rebecca Sugg, Susan Hetzel, Muhammad M. Alvi, Jay Sherman, Jonathan Hartman, Tashia Orr, Ankur Garg, Melissa Turner, Curtis Given, Sara Renfrow, Jeffrey Hilburn, Ellen Looney, Christopher Commichau, Paul Jarvis, Changsoo Hahm, Melissa Mccaulley, Angel Pulido, Sergio Michel, Nima Ramezan-Arab, Françoise Toussaint- Jones, Anna Khanna, Esther Olasoji, Armistead Williams, Elizabeth Purrington, Ratna Reddy, Renee Potter, Bhupat Desai, Karen Tse-Chang, Laurence Ufford, Leslie Drager, Keith O. Jones, Teresa Ellebusch, Michelle Dobrzynski, Elizabeth H. Wise, Ann Jerde, Gauhar Chaudhary, Robyn McLean, Joseph Hanna, Dana Cook, Franklin Marden, Jennifer Orde, Ajay Arora, Shawna Miller, Raymond Reichwein, Deborah Hoffman, Kelly Matmati, Nabil Matmati, Kumiko Owada, Laura Murphy, Ashish Masih, Bethany Fife, Larry Shepherd, Matthew Holzmann, Stephen Gancher, Sabrina Enoch, Matthew Smith, Denise Goings, Joseph Mazzola, Edward Plyler, Lisa Landers, James Napier, Laura Thoreson, Amer Alshekhlee, Michelle Raymond, Tarakad Ramachandran, Michael Jorolemon, David Padalino, Collin Maloney, Jenny Rae Mott, Laxmi P. Dhakal, Cindy Murphy, Truman J. Milling, Patrick Lawrence, Harish Shownkeen, Kathy Hansen, Paul A. Cullis, Lynne Froehlich, Sajjad Mueed, Ryan Pavolka, Steven R. Levine, Nadege Gilles, Laura LaChance, Kanwal Nayyar, Karen Klein, Rose Dotson, Kristopher Rowe, Elisheva Coleman, Emily Sayles, Rajan Gadhia, Jason Lee, Paul W. Lewis, Jenny Nunley, Rehan Sajjad, Carol Halliday, Angelos Katramados, Theresa Holmes, Rashmikant Kothari, Linda Mader, Fen Lei Chang, Kelly Western, Kinjal Desai, Colleen Kehr, Gary Reese, Ashu Jadhav, Mackenzie Steinbach, Jeffrey Saver, Gilda Avila, Janice A. Miller, Alicia Gneiting, Matthew S. Tenser, Sarah Burke

المصدر: Stroke. 53(2)

مصطلحات موضوعية: Male, medicine.medical_specialty, Emergency Medical Services, Quality of life, Fibrinolytic Agents, medicine, Humans, Stroke, Aged, Ischemic Stroke, Advanced and Specialized Nursing, Aged, 80 and over, business.industry, Middle Aged, medicine.disease, Prognosis, Quality Improvement, Treatment Outcome, Tissue Plasminogen Activator, Emergency medicine, Ischemic stroke, Quality of Life, Female, Neurology (clinical), Guideline Adherence, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ded998faabc36a5f9d8cd726a7e54ecaTest
https://pubmed.ncbi.nlm.nih.gov/34645285Test

المؤلفون: Heather Menne, Leigh F. Callahan, Deborah Hoffman, Glen Wunderlich, Michele Potashman, Samantha L. Wronski, Brett Hauber, Ian N. Kremer, Dan Wieberg, Russ Paulsen, Daniel Lee, Dana B. DiBenedetti, Ann Hartry

المصدر: Alzheimer's & Dementia. 16

مصطلحات موضوعية: medicine.medical_specialty, Epidemiology, business.industry, Behavioral neurology, Health Policy, Treatment development, Disease, Neuropsychiatry, Clinical trial, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Medicine, Neurology (clinical), Geriatrics and Gerontology, business, Psychiatry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::573220724a68b6e9df3215bdd56e81e6Test
https://doi.org/10.1002/alz.040100Test

المؤلفون: Deborah Hoffman, Russ Paulsen, Brett Hauber, Ann Hartry, Daniel Lee, Dan Wieberg, Dana B. DiBenedetti, Glen Wunderlich, Michele Potashman, Leigh F. Callahan, Ian N. Kremer

المصدر: Alzheimer's & Dementia. 16

مصطلحات موضوعية: medicine.medical_specialty, Epidemiology, business.industry, Behavioral neurology, Health Policy, Treatment development, Disease, Neuropsychiatry, Clinical trial, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Medicine, Neurology (clinical), Geriatrics and Gerontology, business, Psychiatry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::42f79de99d2fc946d90428e5a684be70Test
https://doi.org/10.1002/alz.040095Test

المؤلفون: Glen Wunderlich, Dana B. DiBenedetti, Ian N. Kremer, Dan Wieberg, Michele Potashman, Deborah Hoffman, Tabassum Majid, Ann Hartry, Russ Paulsen, Daniel Lee, Leigh F. Callahan

المصدر: Alzheimer's & Dementia. 16

مصطلحات موضوعية: medicine.medical_specialty, Epidemiology, business.industry, Behavioral neurology, Health Policy, Treatment development, Disease, Neuropsychiatry, Clinical trial, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Drug development, medicine, Neurology (clinical), Geriatrics and Gerontology, Psychiatry, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2ab606bf3a5aad68e39225051191d10bTest
https://doi.org/10.1002/alz.040099Test

المؤلفون: Maggie Paulich, Christina Theodore-Oklota, Hans T. Bjornsson, Deborah S. Hartman, Shayna Egan, Deborah Hoffman, Christopher J. Evans

المساهمون: Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland

المصدر: American Journal of Medical Genetics. Part a

مصطلحات موضوعية: Adult, Male, Parents, medicine.medical_specialty, Emotions, Burden, Erfðasjúkdómar, Infections, Affect (psychology), burden, Young Adult, Seizures, Surveys and Questionnaires, Patient experience, Genetics, medicine, Humans, Abnormalities, Multiple, survey, Hearing Loss, Psychiatry, Survey, caregiver, Genetics (clinical), Depression (differential diagnoses), Kabuki syndrome, business.industry, Genetic disorder, Original Articles, Middle Aged, medicine.disease, Caregiver, Hematologic Diseases, Additional research, Caregivers, Vestibular Diseases, Face, Autism, Anxiety, Female, Original Article, medicine.symptom, Deglutition Disorders, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4293dc8334bb01ed3d9793e785bf8098Test
https://hdl.handle.net/20.500.11815/2311Test