-
1دورية أكاديمية
المؤلفون: Susan Rojahn, Tina Hambuch, Jessika Adrian, Erik Gafni, Alex Gileta, Hannah Hatchell, Britt Johnson, Ben Kallman, Kate Karfilis, Curtis Kautzer, Michael Kennemer, Lloyd Kirk, Daniel Kvitek, Jessica Lettes, Fenner Macrae, Fernando Mendez, Joshua Paul, Maurizio Pellegrino, Ronny Preciado, Jan Risinger, Matthew Schultz, Lindsay Spurka, Sajani Swamy, Rebecca Truty, Nathan Usem, Andrea Velenich, Swaroop Aradhya
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 12, Pp n/a-n/a (2022)
مصطلحات موضوعية: bioinformatics, genetic testing, molecular genetics, next‐generation sequencing, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
-
2
المؤلفون: Rebecca Truty, Susan Rojahn, Karen Ouyang, Curtis Kautzer, Michael Kennemer, Daniel Pineda-Alvarez, Britt Johnson, Amanda Stafford, Lina Basel-Salmon, Sulagna Saitta, Anne Slavotinek, Settara C. Chandrasekharappa, Carlos Jose Suarez, Leslie Burnett, Robert L. Nussbaum, Swaroop Aradhya
المصدر: The American Journal of Human Genetics. 110:551-564
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::10327a906fe9a593fb8f79865913699eTest
https://doi.org/10.1016/j.ajhg.2023.02.013Test -
3
المؤلفون: Megan H. Cleveland, Shazia Mahamdallie, Brian H. Shirts, Stephen F. Kingsmore, Nazneen Rahman, Eric W. Klee, Farol L. Tomson, Swaroop Aradhya, Kathryn E. Hatchell, Wasanthi DeSilva, Sara L. Bristow, Tina Hambuch, Sheila Seal, Michael Kennemer, Matthew J. Ferber, Shimul Chowdhury, Peter M. Vallone, Andrew Fellowes, Russell Garlick, Justin M. Zook, Robert L. Nussbaum, Yan Ding, Rebecca Truty, Marc L. Salit, Catherine Huang, Stephen E. Lincoln
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, business.industry, Medical laboratory, High-Throughput Nucleotide Sequencing, Pilot Projects, Computational biology, Biology, Article, Human genetics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, INDEL Mutation, Clinical genetic, Humans, Medicine, Hereditary Cancer, Genetic Testing, Child, Indel, Carrier screening, business, 030217 neurology & neurosurgery, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba13623212faa2e5f9782daac0df4e0Test
https://doi.org/10.1038/s41436-021-01187-wTest -
4
المؤلفون: Marjorie Jody Westbrook, Thomas L. Winder, Daniel J. Kvitek, Michael Kennemer, Christopher A. Tan, Rebecca Truty, Perry B. Shieh
المصدر: Genetic Testing and Molecular Biomarkers. 24:616-624
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, Concordance, Gene Dosage, SMN1, Computational biology, Real-Time Polymerase Chain Reaction, DNA sequencing, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Multiplex, Genetic Testing, Copy-number variation, Child, Genetics (clinical), Aged, business.industry, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Neuromuscular Diseases, General Medicine, Spinal muscular atrophy, Middle Aged, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, nervous system diseases, Survival of Motor Neuron 2 Protein, 030104 developmental biology, Real-time polymerase chain reaction, Child, Preschool, 030220 oncology & carcinogenesis, Female, business, Multiplex Polymerase Chain Reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9380f714d6e5bc63352c756a83dd6575Test
https://doi.org/10.1089/gtmb.2019.0282Test -
5
المؤلفون: Michael Kennemer, Joshua S. Paul, Stephen E Lincoln, Eric Olivares, Swaroop Aradhya, Rebecca Truty, Robert L. Nussbaum
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, DNA Copy Number Variations, Intragenic deletion/duplication copy-number variant, 030105 genetics & heredity, Biology, Mendelian disease, Pathogenic variation prevalence, Article, 03 medical and health sciences, Exon, Next-generation sequencing panel, Gene panel, mental disorders, medicine, Humans, Genetic Predisposition to Disease, Copy-number variation, Genetic Testing, Gene, Genetics (clinical), Genetic Association Studies, Genetic testing, Disease gene, Genetics, Comparative Genomic Hybridization, medicine.diagnostic_test, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Exons, 030104 developmental biology, Normal variation, Phenotype, Diagnostic genetic testing, Structural variant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0229c2ffe90d22f29cb389776500a01Test
http://europepmc.org/articles/PMC6752305Test