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1دورية أكاديمية
المؤلفون: Cocanougher, Benjamin T., Liu, Samuel W., Francescatto, Ludmila, Behura, Alexander, Anneling, Mariele, Jackson, David G., Deak, Kristen L., Hornik, Chi D., ElMallah, Mai K., Pizoli, Carolyn E., Smith, Edward C., Queenie Tan, Khoon Ghee, McDonald, Marie T.
المساهمون: NHLBI
المصدر: Human Genetics and Genomics Advances ; page 100288 ; ISSN 2666-2477
مصطلحات موضوعية: Genetics (clinical), Molecular Medicine
الإتاحة: https://doi.org/10.1016/j.xhgg.2024.100288Test
https://api.elsevier.com/content/article/PII:S2666247724000277?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666247724000277?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Miller, Eric, Rehder, Catherine, Rentas, Stefan, Rapisardo, Sarah, Deak, Kristen
المصدر: Genetics in Medicine Open ; volume 2, page 101627 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101627Test
https://api.elsevier.com/content/article/PII:S2949774424007738?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424007738?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Francescatto, Ludmila, Cocanougher, Benjamin, Deak, Kristen, Rehder, Catherine, Rapisardo, Sarah, El-Gharbawy, Areeg, Rentas, Stefan
المصدر: Genetics in Medicine Open ; volume 2, page 101652 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101652Test
https://api.elsevier.com/content/article/PII:S2949774424007982?httpAccept=text/xmlTest
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4دورية أكاديمية
المؤلفون: Deignan, Joshua L., Aggarwal, Vimla, Bale, Allen E., Bellissimo, Daniel B., Booker, Jessica K., Cao, Yang, Crooks, Kristy R., Deak, Kristen L., Del Gaudio, Daniela, Funke, Birgit, Hoppman, Nicole L., Horner, Vanessa, Hufnagel, Robert B., Jackson-Cook, Colleen, Koduru, Prasad, Leung, Marco L., Li, Shibo, Liu, Pengfei, Luo, Minjie, Mao, Rong, Mason-Suares, Heather, Mikhail, Fady M., Moore, Stephen R., Naeem, Rizwan C., Pollard, Laura M., Repnikova, Elena A., Shao, Lina, Shaw, Brandon M., Shetty, Shashirekha, Smolarek, Teresa A., Spiteri, Elizabeth, Van Ziffle, Jessica, Vance, Gail H., Vnencak-Jones, Cindy L., Williams, Eli S.
المصدر: Genetics in Medicine Open ; volume 2, page 101820 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101820Test
https://api.elsevier.com/content/article/PII:S294977442400966X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S294977442400966X?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Cope, Heidi, Barseghyan, Hayk, Bhattacharya, Surajit, Fu, Yulong, Hoppman, Nicole, Marcou, Cherisse, Walley, Nicole, Rehder, Catherine, Deak, Kristen, Alkelai, Anna, Vilain, Eric, Shashi, Vandana
المصدر: Molecular Genetics and Genomic Medicine. 9(7)
مصطلحات موضوعية: copy number variants, epilepsy, mosaicism, optical genome mapping, structural variants, Child, Preschool, Epileptic Syndromes, Gene Deletion, Genetic Testing, Humans, Male, Mosaicism, Protein Serine-Threonine Kinases, Sequence Analysis, DNA, Sequence Inversion, Spasms, Infantile
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/683506fwTest
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6دورية أكاديمية
المؤلفون: Keefer, Laurel A., White, James R., Wood, Derrick E., Gerding, Kelly M. R., Valkenburg, Kenneth C., Riley, David, Gault, Christopher, Papp, Eniko, Vollmer, Christine M., Greer, Amy, Hernandez, James, McGregor, Paul M., Zingone, Adriana, Ryan, Bríd M., Deak, Kristen, McCall, Shannon J., Datto, Michael B., Prescott, James L., Thompson, John F., Cerqueira, Gustavo C., Jones, Siân, Simmons, John K., McElhinny, Abigail, Dickey, Jennifer, Angiuoli, Samuel V., Diaz, Luis A., Velculescu, Victor E., Sausen, Mark
المصدر: Nature Communications ; volume 13, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-022-30380-xTest
https://www.nature.com/articles/s41467-022-30380-x.pdfTest
https://www.nature.com/articles/s41467-022-30380-xTest -
7دورية أكاديمية
المؤلفون: Beaman, M. Makenzie, Guidugli, Lucia, Hammer, Monia, Barrows, Chelsea, Gregor, Anne, Lee, Sangmoon, Deak, Kristen L., McDonald, Marie T., Jensen, Courtney, Zaki, Maha S., Masri, Amira T., Hobbs, Charlotte A., Gleeson, Joseph G., Cohen, Jennifer L.
المصدر: American Journal of Medical Genetics. Part A; Nov2023, Vol. 191 Issue 11, p2757-2767, 11p
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8دورية أكاديمية
المؤلفون: Hijazi, Ghada, Paschall, Anna, Young, Sarah P., Smith, Brian, Case, Laura E., Boggs, Tracy, Amarasekara, Sathya, Austin, Stephanie L., Pendyal, Surekha, El-Gharbawy, Areeg, Deak, Kristen L., Muir, Andrew J., Kishnani, Priya S.
المصدر: Molecular Genetics and Metabolism Reports ; volume 29, page 100821 ; ISSN 2214-4269
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100821Test
https://api.elsevier.com/content/article/PII:S2214426921001166?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426921001166?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Deak, Kristen L., Jackson, Jennifer B., Valkenburg, Kenneth C., Keefer, Laurel A., Robinson Gerding, Kelly M., Angiuoli, Samuel V., Datto, Michael B., McCall, Shannon J.
المصدر: The Journal of Molecular Diagnostics ; volume 23, issue 10, page 1324-1333 ; ISSN 1525-1578
مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine
الإتاحة: https://doi.org/10.1016/j.jmoldx.2021.07.004Test
https://api.elsevier.com/content/article/PII:S1525157821002105?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525157821002105?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Boyles, Abee L., Billups, Ashley V., Deak, Kristen L., Siegel, Deborah G., Mehltretter, Lorraine, Slifer, Susan H., Bassuk, Alexander G., Kessler, John A., Reed, Michael C., Nijhout, H. Frederik, George, Timothy M., Enterline, David S., Gilbert, John R., Speer, Marcy C., Aben, J., Aylsworth, A., Bodurtha, J., Brei, T., Buran, C., Iskandar, B., Ito, J., Lasarsky, N., Mack, P., Meeropol, E., Mackey, J., McLone, D., Oakes, W. J., Powell, C., Sawin, K., Walker, M., Worley, G.
المصدر: Environmental Health Perspectives, 2006 Oct 01. 114(10), 1547-1552.
الوصول الحر: https://www.jstor.org/stable/3838179Test