-
1دورية أكاديمية
المؤلفون: Kirsi M. Kinnunen, Adam J. Schwarz, Emily C. Turner, Dorian Pustina, Emily C. Gantman, Mark F. Gordon, Richard Joules, Ariana P. Mullin, Rachael I. Scahill, Nellie Georgiou-Karistianis, The Huntington's Disease Regulatory Science Consortium (HD-RSC), Varun Aggarwal, Shazia Ali, Irina Antonijevic, Astri Arnesen, Nazem Atassi, Brian Beers, Beth Belluscio, Limor Ben Har, Angele Benard, Caroline Benn, Brian Bettencourt, Anu Bhattacharyya, Robi Blumenstein, Beth Borowsky, Bret Bostwick, Jackson Burton, Angelika Caputo, David Cooper, Brad Elmer, Rebecca Evans, Andrew Feigen, Terrence Fisher, Rebecca Fuller, Emily Gantman, Danielle Gartner, Michal Geva, Sandra Gonzalez, Adam Good, Mark Gordon, Jaya Goyal, Michael Hayden, Priyantha Herath, Steve Hersch, Jianying Hu, Elise Kayson, Eileen Koski, Bernhard Landwehrmeyer, Michelle Lax, Blair Leavitt, Dorothy Leong, Oren Levy, Enchi Liu, Jeff Long, Doug Macdonald, Jacqueline Major, Lahar Mehta, Tiago Mestre, Eric Miller, Christian Mueller, Catherine O'Riordan, Jennifer Panagoulias, Mike Panzara, Anne Pedata, Jennifer Petrillo-Billet, Dave Podskalny, Alisha Reader, Shelly Redman, Ralf Reilmann, Klaus Romero, Christopher Ross, Anne Rosser, Cristina Sampaio, Jan Samzelius, Scott Schobel, Adam Schwarz, Sudhir Sivakumaran, Jennie Socha, Glenn Stebbins, Julie Stout, Sarah Tabrizi, Emily Turner, Charles Venuto, Louise Vetter, Vissia Viglietta, Sarah Wahlstrom Helgren, Beth White, Ed Wild, George Yohrling, Maurice Zauderer
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: Huntington's disease, neurodegenerative, biomarkers, neuroimaging, volumetric MRI, C-Path, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
-
2
المؤلفون: Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A.S. Vorstman, David T. Miller, Christian P. Schaaf
المساهمون: Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] (ADMI), Drexel University, Invitae Corporation, Illumina, Baylor College of Medicine (BCM), Baylor University, Natera [San Carlos, CA, USA], Children’s Hospital Los Angeles [Los Angeles], Keck School of Medicine [Los Angeles], University of Southern California (USC), Columbia University Irving Medical Center (CUIMC), Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], New York Medical College (NYMC), University of Illinois [Chicago] (UIC), University of Illinois System, National Human Genome Research Institute (NHGRI), University of the Witwatersrand [Johannesburg] (WITS), Université de Liège, Trillium Health Partners - Mississauga Hospital [Mississauga, ON, Canada] (THP-MH), University of Washington [Seattle], University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), St. Michael's Hospital, The Hospital for sick children [Toronto] (SickKids), Garvan Institute of medical research, Warren Alpert Medical School of Brown University, University of California [Los Angeles] (UCLA), University of California (UC), The Jackson Laboratory [Bar Harbor] (JAX), University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Heidelberg University Hospital [Heidelberg], This work was supported by the National Human Genome Research Institute of the National Institutes of Health under award number U24HG006834., Betancur, Catalina
المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩مصطلحات موضوعية: ClinGen, MESH: Humans, Autism Spectrum Disorder, Autism, MESH: Autism Spectrum Disorder* / genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Autism Spectrum Disorder* / diagnosis, MESH: Intellectual Disability* / diagnosis, MESH: Intellectual Disability* / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Intellectual Disability, MESH: Autistic Disorder* / genetics, MESH: Autistic Disorder* / diagnosis, Humans, Autistic Disorder, MESH: Neurodevelopmental Disorders* / genetics, Genetics (clinical), Gene–disease validity
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b07ead00b13dfac939c5dc9322d918b8
https://doi.org/10.1016/j.gim.2022.05.001 -
3
المؤلفون: Bret Bostwick, Ping Fang, Ankita Patel, V. Reid Sutton
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172:i-i
مصطلحات موضوعية: Genetics, Genetics (clinical)