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1دورية أكاديمية
المؤلفون: Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang
المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1302-1309 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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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: Gordana, Raca, Caroline, Astbury, Andrea, Behlmann, Mauricio J, De Castro, Scott E, Hickey, Ender, Karaca, Chelsea, Lowther, Erin Rooney, Riggs, Bryce A, Seifert, Erik C, Thorland, Joshua L, Deignan
المصدر: Genetics in Medicine. 25:100316
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eefc8269fe3a923897926e8ff770eac
https://doi.org/10.1016/j.gim.2022.09.017 -
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المؤلفون: Alka Chaubey, Vidya Ganapathy, Vinish Ramachander, C. A. Valencia, Andrea Behlmann, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Leah Stansberry, Suresh Shenoy, Lakshmanan Jagannathan, Alessandra Ferlini, Lora Jh Bean, Abhinav Mathur, Madhuri Hegde
المصدر: Human mutationREFERENCES. 42(5)
مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, Computational biology, Carrier testing, Biology, DNA sequencing, Dystrophin, 03 medical and health sciences, Exon, Neonatal Screening, Genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Newborn screening, 030305 genetics & heredity, Breakpoint, Infant, Newborn, High-Throughput Nucleotide Sequencing, Exons, Genomics, medicine.disease, Muscular Dystrophy, Duchenne, Female, Gene Deletion
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المؤلفون: Saurav Guha, Caroline Astbury, Joshua L. Deignan, Marwan K. Tayeh, Andrea Behlmann, Erin Wakeling, Bryce A. Seifert, Kristin G. Monaghan, Honey V. Reddi
المصدر: Genetics in Medicine. 23:2462
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Technical standard, MEDLINE, Addendum, Spinal muscular atrophy, medicine.disease, Muscular Atrophy, Spinal, Physical medicine and rehabilitation, Humans, Medicine, Genetic Testing, business, Genetics (clinical)
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المؤلفون: Babi Ramesh Reddy Nallamilli, Christin D. Collins, Madhuri Hegde, Leah Stansberry, Andrea Behlmann
المصدر: Molecular Genetics and Metabolism. 132:S255-S256
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Copy-number variation, Computational biology, Biology, Molecular Biology, Biochemistry, Exome, Genome, Coding (social sciences)
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المؤلفون: Zeqiang Ma, Madhuri Hegde, Arul Duraisamy, Ruby Liu, Leah Stansberry, Andrea Behlmann, Abhinav Mathur, Christin D. Collins
المصدر: Molecular Genetics and Metabolism. 132:S236-S237
مصطلحات موضوعية: Whole genome sequencing, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, Computational biology, Personalized medicine, Biology, business, Molecular Biology, Biochemistry, Test (assessment)
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المؤلفون: Andrea Behlmann, Ian Jarvis, Lora J. H. Bean, Zeqiang Ma, PJ Borandi, Nam Le, Bruno Ping, Jan Gurr, Evangeline Voultsis, Dayle Blencowe, Stephanie Dallaire, Eprem Chin, Laura Schmitt, Sean Romigh, Madhuri Hegde
المصدر: Molecular Genetics and Metabolism
مصطلحات موضوعية: 2019-20 coronavirus outbreak, Laboratory Genetics and Genomics, Endocrinology, Geography, Coronavirus disease 2019 (COVID-19), Endocrinology, Diabetes and Metabolism, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Pandemic, Genetics, Molecular Biology, Biochemistry, Data science