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1مورد إلكتروني
المؤلفون: Sigve Nakken, Peter Diakumis, Vlad Savelyev, actions-user, daniel-nebdal, Abdulrahman Azab
العلاقة: https://github.com/sigven/pcgr/tree/v2.0.0Test; https://dx.doi.org/10.5281/zenodo.6576293Test; https://dx.doi.org/10.5281/zenodo.6276218Test; https://dx.doi.org/10.5281/zenodo.7375553Test; https://dx.doi.org/10.5281/zenodo.12556481Test; https://dx.doi.org/10.5281/zenodo.7737400Test; https://dx.doi.org/10.5281/zenodo.6396188Test; https://dx.doi.org/10.5281/zenodo.7684786Test; https://dx.doi.org/10.5281/zenodo.6362593Test; https://dx.doi.org/10.5281/zenodo.7737407Test
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2مورد إلكتروني
المؤلفون: Vahid, epiercehoffman, Mark Walker, gatk-sv-bot, cwhelan, Ted Brookings, kirtanav98, tedsharpe, Ryan L. Collins, Shadi Zaheri, Henrique Ribeiro, Snow, Matt Welland, Michael Franklin, Nick Watts, Peter Diakumis, Stephanie Hao
العلاقة: https://github.com/broadinstitute/gatk-sv/tree/v0.28.5-betaTest; https://dx.doi.org/10.5281/zenodo.8226160Test; https://dx.doi.org/10.5281/zenodo.7908940Test; https://dx.doi.org/10.5281/zenodo.8092086Test; https://dx.doi.org/10.5281/zenodo.8270777Test; https://dx.doi.org/10.5281/zenodo.8087528Test; https://dx.doi.org/10.5281/zenodo.11106503Test; https://dx.doi.org/10.5281/zenodo.10035274Test
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3
المؤلفون: Dongmao Wang, Paul Trevillian, Stephen May, Peter Diakumis, Yanyan Wang, Deb Colville, Melanie Bahlo, Una Greferath, Erica Fletcher, Barbara Young, Heather G. Mack, Judy Savige
المصدر: Ophthalmic Genetics. 44:19-27
مصطلحات موضوعية: Ophthalmology, Pediatrics, Perinatology and Child Health, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a2ba45ce91ad40285bc0d26c437bd579Test
https://doi.org/10.1080/13816810.2022.2144900Test -
4مورد إلكتروني
المؤلفون: Sigve Nakken, Peter Diakumis, Vlad Savelyev, actions-user, daniel-nebdal, Abdulrahman Azab
العلاقة: https://github.com/sigven/pcgr/tree/v1.3.0Test; https://zenodo.org/record/7684786Test; https://doi.org/10.5281/zenodo.7684786Test; oai:zenodo.org:7684786
الإتاحة: https://doi.org/10.5281/zenodo.7684786Test
https://doi.org/10.5281/zenodo.6276217Test
https://zenodo.org/record/7684786Test -
5مورد إلكتروني
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6مورد إلكتروني
المؤلفون: epiercehoffman, Vahid, Mark Walker, cwhelan, gatk-sv-bot, Ted Brookings, tedsharpe, Ryan L. Collins, Shadi Zaheri, Henrique Ribeiro, Snow, Michael Franklin, Nick Watts, Peter Diakumis, Stephanie Hao
العلاقة: https://github.com/broadinstitute/gatk-sv/tree/v0.27.3-betaTest; https://zenodo.org/record/7908940Test; https://doi.org/10.5281/zenodo.7908940Test; oai:zenodo.org:7908940
الإتاحة: https://doi.org/10.5281/zenodo.7908940Test
https://doi.org/10.5281/zenodo.7908939Test
https://zenodo.org/record/7908940Test -
7مورد إلكتروني
المؤلفون: Sigve Nakken, Peter Diakumis, Vlad Savelyev, actions-user, Abdulrahman Azab
العلاقة: https://github.com/sigven/pcgr/tree/v1.0.2Test; https://zenodo.org/record/6396188Test; https://doi.org/10.5281/zenodo.6396188Test; oai:zenodo.org:6396188
الإتاحة: https://doi.org/10.5281/zenodo.6396188Test
https://doi.org/10.5281/zenodo.6276217Test
https://zenodo.org/record/6396188Test -
8مورد إلكتروني
المؤلفون: Daniel Cameron, jibsch, Arthur Hsu, JocelynSP, Alexis Lucattini, Christian Brueffer, Hillary Elrick, Peter Haverty, shenkers, Tony Papenfuss, Peter Diakumis, Vlad Savelyev
العلاقة: https://github.com/PapenfussLab/gridss/tree/v2.13.2Test; https://zenodo.org/record/5989166Test; https://doi.org/10.5281/zenodo.5989166Test; oai:zenodo.org:5989166
الإتاحة: https://doi.org/10.5281/zenodo.5989166Test
https://doi.org/10.5281/zenodo.4777668Test
https://zenodo.org/record/5989166Test -
9مورد إلكتروني
المؤلفون: Brent Pedersen, Matthias De Smet, Damien Zammit, Tor Solli-Nowlan, Brad Chapman, Peter Diakumis, Wang Yaoshen
العلاقة: https://github.com/brentp/vcfanno/tree/v0.3.5Test; https://zenodo.org/record/7377822Test; https://doi.org/10.5281/zenodo.7377822Test; oai:zenodo.org:7377822
الإتاحة: https://doi.org/10.5281/zenodo.7377822Test
https://doi.org/10.5281/zenodo.594954Test
https://zenodo.org/record/7377822Test -
10
المؤلفون: Greta Gillies, Keri Finlay, Hayley S. Mountford, Peter Hickey, Ingrid E. Scheffer, Vesna Lukic, Bradley P. Coe, Kiymet Bozaoglu, Melanie Bahlo, Haloom Rafehi, Audrey Rattray, Paul J. Lockhart, Natasha J Brown, Dana Alhuzaimi, Tanya Vick, Miriam Fanjul-Fernández, Cherie C Green, Sarah J. Wilson, Martin B. Delatycki, Savannah Young, Evan E. Eichler, Peter Diakumis
المصدر: Hum Mutat
مصطلحات موضوعية: Proband, Genetics, Candidate gene, Autism Spectrum Disorder, Glycogen Debranching Enzyme System, Heritability, Biology, medicine.disease, behavioral disciplines and activities, Article, Autism spectrum disorder, 1,4-alpha-Glucan Branching Enzyme, Cohort, mental disorders, Etiology, medicine, Autism, Humans, Exome, Genetic Predisposition to Disease, Glucans, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1061e3918e4b875e007635c67e625a48Test
https://europepmc.org/articles/PMC8720068Test/