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1دورية أكاديمية
المؤلفون: Akula, Shyam S.K., Chen, Allen A.Y., Neil, Jennifer J.E., Shao, Diane D.D., Mo, Alisa, Hylton, Norma N.K., DiTroia, Stephanie S.P., Ganesh, Vijay, Smith, Richard R.S., O'Kane, Katherine, Yeh, Rebecca R.C., Marciano, Jack J.H., Kirkham, Samantha, Kenny, Connor C.J., Song, Janet J.H.T., Al Saffar, Muna, Millan, Francisca, Harris, David D.J., Murphy, Andrea A.V., Klemp, Kara K.C., Braddock, Stephen S.R., Brand, Harrison, Wong, Isaac, Talkowski, Michael M.E., O'Donnell-Luria, Anne, Lai, Abbe, Hill, Robert Sean, Mochida, Ganeshwaran G.H., Doan, Ryan R.N., Barkovich, Anthony James, Yang, Edward, Amrom, Dina, Andermann, Eva, Poduri, Annapurna, Walsh, Christopher C.A.
المصدر: JAMA Neurology, 80 (9
مصطلحات موضوعية: Sciences humaines, Ophtalmologie
وصف الملف: 1 full-text file(s): application/pdf
العلاقة: uri/info:doi/10.1001/jamaneurol.2023.2363; uri/info:pmid/37486637; uri/info:scp/85170581602; https://dipot.ulb.ac.be/dspace/bitstream/2013/371736/1/doi_355380.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/371736Test
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2دورية أكاديمية
المؤلفون: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R, Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O'Heir, Emily, Ganesh, Vijay S, Wojcik, Monica H, Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L, Neil, Jennifer E, Shao, Diane D, Walsh, Christopher A, Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H, Gleeson, Joseph G, Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G, Madden, Jill A, Genetti, Casie A, Beggs, Alan H, Agrawal, Pankaj B, Bujakowska, Kinga M, Place, Emily, Pierce, Eric A, Donkervoort, Sandra, Bönnemann, Carsten G, Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M, Töpf, Ana, Straub, Volker, Fleming, Mark D, Pollak, Martin R, Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A, Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G, MacArthur, Daniel G, Rehm, Heidi L, Talkowski, Michael E, Brand, Harrison, O'Donnell-Luria, Anne
المصدر: Am J Hum Genet ; ISSN:1537-6605 ; Volume:111 ; Issue:5
مصطلحات موضوعية: CNV, GATK-gCNV, copy number variant, diagnostic yield, exome, variant classification
العلاقة: https://doi.org/10.1016/j.ajhg.2024.03.008Test; https://pubmed.ncbi.nlm.nih.gov/38565148Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080278Test/
الإتاحة: https://doi.org/10.1016/j.ajhg.2024.03.008Test
https://pubmed.ncbi.nlm.nih.gov/38565148Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080278Test/ -
3دورية أكاديمية
المؤلفون: Akula, Shyam K., Chen, Allen Y., Neil, Jennifer E., Shao, Diane D., Mo, Alisa, Hylton, Norma K., DiTroia, Stephanie, Ganesh, Vijay S., Smith, Richard S., O’Kane, Katherine, Yeh, Rebecca C., Marciano, Jack H., Kirkham, Samantha, Kenny, Connor J., Song, Janet H. T., Al Saffar, Muna, Millan, Francisca, Harris, David J., Murphy, Andrea V., Klemp, Kara C., Braddock, Stephen R., Brand, Harrison, Wong, Isaac, Talkowski, Michael E., O’Donnell-Luria, Anne, Lai, Abbe, Hill, Robert Sean, Mochida, Ganeshwaran H., Doan, Ryan N., Barkovich, A. James, Yang, Edward, Amrom, Dina, Andermann, Eva, Poduri, Annapurna, Walsh, Christopher A., Abu-Libdeh, Bassam, Al-Gazali, Lihadh, Alva Moncayo, Edith, Anderman, Eva, Anttonen, Anna-Kaisa, Barnes, Saunder, Barnett, Sara, Barron, Todd, Barry, Brenda J., Basel-Vanagaite, Lina, Bastaki, Laila, Bello-Espinosa, Luis, Ben-Omran, Tawfeg
المصدر: JAMA Neurology ; volume 80, issue 9, page 980 ; ISSN 2168-6149
الإتاحة: https://doi.org/10.1001/jamaneurol.2023.2363Test
https://jamanetwork.com/journals/jamaneurology/articlepdf/2807207/jamaneurology_akula_2023_oi_230051_1694018368.88686.pdfTest -
4دورية أكاديمية
المؤلفون: Luquette, Lovelace J., Miller, Michael B., Zhou, Zinan, Bohrson, Craig L., Zhao, Yifan, Jin, Hu, Gulhan, Doga, Ganz, Javier, Bizzotto, Sara, Kirkham, Samantha, Hochepied, Tino, Libert, Claude, Galor, Alon, Kim, Junho, Lodato, Michael A., Garaycoechea, Juan I., Gawad, Charles, West, Jay, Walsh, Christopher A., Park, Peter J.
المساهمون: Hubrecht Institute with UMC
مصطلحات موضوعية: Genetics
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Luquette, Lovelace J, Miller, Michael B, Zhou, Zinan, Bohrson, Craig L, Zhao, Yifan, Jin, Hu, Gulhan, Doga, Ganz, Javier, Bizzotto, Sara, Kirkham, Samantha, Hochepied, Tino, Libert, Claude, Galor, Alon, Kim, Junho, Lodato, Michael A, Garaycoechea, Juan I, Gawad, Charles, West, Jay, Walsh, Christopher A, Park, Peter J
المصدر: Luquette , L J , Miller , M B , Zhou , Z , Bohrson , C L , Zhao , Y , Jin , H , Gulhan , D , Ganz , J , Bizzotto , S , Kirkham , S , Hochepied , T , Libert , C , Galor , A , Kim , J , Lodato , M A , Garaycoechea , J I , Gawad , C , West , J , Walsh , C A & Park , P J 2022 , ' Single-cell genome sequencing of human neurons identifies somatic point mutation ....
مصطلحات موضوعية: Genome, Human/genetics, High-Throughput Nucleotide Sequencing/methods, Humans, INDEL Mutation/genetics, Neurons, Nucleotides, Point Mutation, Polymorphism, Single Nucleotide/genetics, Single-Cell Analysis
الإتاحة: https://doi.org/10.1038/s41588-022-01180-2Test
https://doi.org/20.500.11755/c32b40db-e719-45a1-8319-adee9a8a4292Test
https://pure.knaw.nl/portal/en/publications/c32b40db-e719-45a1-8319-adee9a8a4292Test
https://hdl.handle.net/20.500.11755/c32b40db-e719-45a1-8319-adee9a8a4292Test -
6دورية أكاديمية
المؤلفون: Miller, Michael B., Huang, August Yue, Kim, Junho, Zhou, Zinan, Kirkham, Samantha L, Maury, Eduardo A, Ziegenfuss, Jennifer S, Reed, Hannah C, Rento, Lariza, Ames, Heather M, Oakley, Derek, Frosch, Matthew P., Hyman, Bradley T., Lodato, Michael, Lee, Alice E., Walsh, Christopher A.
المصدر: Alzheimer's & Dementia ; volume 18, issue S4 ; ISSN 1552-5260 1552-5279
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7دورية أكاديمية
المؤلفون: Miller, Michael B., Huang, August Yue, Kim, Junho, Zhou, Zinan, Kirkham, Samantha L., Maury, Eduardo A., Ziegenfuss, Jennifer S., Reed, Hannah C., Neil, Jennifer E., Rento, Lariza, Ryu, Steven C., Ma, Chanthia C., Luquette, Lovelace J., Ames, Heather M., Oakley, Derek H., Frosch, Matthew P., Hyman, Bradley T., Lodato, Michael A., Lee, Eunjung Alice, Walsh, Christopher A.
المصدر: Nature ; volume 604, issue 7907, page 714-722 ; ISSN 0028-0836 1476-4687
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41586-022-04640-1Test
https://www.nature.com/articles/s41586-022-04640-1.pdfTest
https://www.nature.com/articles/s41586-022-04640-1Test