المؤلفون: Shankar, Suma P, Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G, Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R, Schaffrath, Raffael, Alkuraya, Fowzan S, Brinkmann, Ulrich, Eriksson, Leif A, Lloyd, Kent, Rauen, Katherine A, Network, Undiagnosed Diseases, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L, Fisher, Paul G

المصدر: Genetics in Medicine. 24(7)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Pediatric, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adenosine Diphosphate, Animals, Histidine, Humans, Methyltransferases, Mice, Mice, Inbred C57BL, Neurodevelopmental Disorders, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Syndrome, Nonverbal neurodevelopment delays, Novel gene discovery, Precision animal modeling, Precision genomics, Translational genetics, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9kg2s7vk
https://escholarship.org/content/qt9kg2s7vk/qt9kg2s7vk.pdf

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المؤلفون: Jianzong Du, Dongdong Lin, Ruan Yuan, Xiaopei Chen, Xiaoli Liu, Jing Yan

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: diabetes mellitus, graph embedding, novel gene discovery, molecular network, disease gene prediction, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.779186/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c1d0cf5952a84b24a761cb68e23a744a

المؤلفون: Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell-Luria

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: Mendelian, novel gene discovery, disease–gene relationships, rare genetic disorders, genomics, rare disease, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.674295/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1f94c5ca62e1406f9efa011c919c0a61

المؤلفون: Lau, Jarred

مصطلحات موضوعية: novel gene discovery, congenital myasthenic syndromes, rare disease, zebrafish, SYT11, exome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8531cbedf686c77ab2843e9cbfa7203a

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المؤلفون: Culligan, Eamonn P, Sleator, Roy D, Marchesi, Julian R, Hill, Colin

المصدر: Virulence

مصطلحات موضوعية: novel gene discovery, metagenomics, Biological Products, gut microbiome, Review, functional metagenomics, bioengineered probiotics, Drug Discovery, microbiota, Environmental Microbiology, Humans, Metagenome, biotherapeutics, metabiotechnology, Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9818c00d5aff59563381e0d61650bb40
http://europepmc.org/articles/PMC3979868