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1دورية أكاديمية
المؤلفون: Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Laura M. Amendola, David R. Bentley, Ryan J. Taft, Denise L. Perry, Alison J. Coffey, Carolyn Brown, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Katie Golden-Grant, Akanchha Kesari, Alka Malhotra, Becky Milewski, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Brittany Thomas, Erin Thorpe
المصدر: Cell Genomics, Vol 3, Iss 2, Pp 100258- (2023)
مصطلحات موضوعية: rare disease, RUGD, gene curation, gene-disease relationship, GDR, genome sequencing, Genetics, QH426-470, Internal medicine, RC31-1245
وصف الملف: electronic resource
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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 -
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المؤلفون: Julie P. Taylor, Alka Malhotra, Nicole J. Burns, Amanda R. Clause, Carolyn M. Brown, Brendan T. Burns, Anjana Chandrasekhar, Zinayida Schlachetzki, Maren Bennett, Erin Thorpe, Ryan J. Taft, Denise L. Perry, Alison J. Coffey
المصدر: Human Mutation.
مصطلحات موضوعية: Whole Genome Sequencing, Genetics, High-Throughput Nucleotide Sequencing, Humans, Laboratories, Clinical, Genetics (clinical)
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المؤلفون: Kayla J, Muirhead, Amanda R, Clause, Zinayida, Schlachetzki, Holly, Dubbs, Denise L, Perry, R Tanner, Hagelstrom, Ryan J, Taft, Adeline, Vanderver
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Research Report, clinodactyly of the 5th finger, short chin, Limb Deformities, Congenital, malar flattening, tapered finger, Eyelids, abnormal CNS myelination, cerebral hypomyelination, failure to thrive in infancy, bilateral single transverse palmar creases, Intellectual Disability, Microcephaly, Humans, aggressive behavior, central hypotonia, Collagen Type II, recurrent otitis media, Tracheoesophageal Fistula
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6fc61c19ce65632c6e463dec057fce38
https://pubmed.ncbi.nlm.nih.gov/34737199 -
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المؤلفون: Mari Mori, Amanda R. Clause, Kristen Truxal, R. Tanner Hagelstrom, Kandamurugu Manickam, Stephen G. Kaler, Vinay Prasad, Jonathan Windster, Maria M. Alves, Carlo Di Lorenzo
المصدر: JPGN Reports. 3:e258
مصطلحات موضوعية: General Medicine
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المؤلفون: Elizabeth A. Capaldi, Amanda R. Clause
المصدر: Journal of Experimental Zoology Part A: Comparative Experimental Biology. :965-973
مصطلحات موضوعية: Tail, Behavior, Animal, Ecology, Regeneration (biology), Lizards, Context (language use), Biology, Structure and function, Everyday experience, Physiological Adaptations, Species Specificity, Neural regulation, Animals, Regeneration, Animal Science and Zoology, Process (anatomy), Autotomy, Neuroscience