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1دورية أكاديمية
المؤلفون: Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana PG, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren DM, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny EV, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark
المصدر: Genetics in Medicine. 22(5)
مصطلحات موضوعية: Genetics, Clinical Research, Congenital Structural Anomalies, Brain Disorders, Pediatric, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Child, Female, GATA Transcription Factors, Humans, Intellectual Disability, Megalencephaly, Neurodevelopmental Disorders, Nucleosomes, Phenotype, Pregnancy, Repressor Proteins, GATAD2B, NuRD complex, apraxia of speech, chromatin remodeling, macrocephaly, Undiagnosed Diseases Network, GATAD2B, NuRD complex, apraxia of speech, chromatin remodeling, macrocephaly, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7683d0mfTest
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2دورية أكاديمية
المؤلفون: Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden, Silva, Ana, Lee, Hane, Douine, Emilie, Otero, Maria, Choi, Andrew, Grand, Katheryn, Taff, Ingrid, Delgado, Mauricio, Hajianpour, M, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen, Vergano, Samantha, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana, Wain, Karen, Challman, Thomas, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane, Hurst, Jane, Fitzpatrick, David, Morton, Jenny, Cox, Helen, Venkateswaran, Sunita, Young, Juan, Marsh, Eric, Nelson, Stanley, Martinez, Julian, Graham, John, Kini, Usha, Mackay, Joel, Pierson, Tyler
المصدر: Genetics in Medicine. 22(4)
وصف الملف: application/pdf
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3دورية أكاديمية
المؤلفون: Lunke, Sebastian, Bouffler, Sophie E., Patel, Chirag V., Sandaradura, Sarah A., Wilson, Meredith, Pinner, Jason, Hunter, Matthew F., Barnett, Christopher P., Wallis, Mathew, Kamien, Benjamin, Tan, Tiong Y., Freckmann, Mary-Louise, Chong, Belinda, Phelan, Dean, Francis, David, Kassahn, Karin S., Ha, Thuong, Gao, Song, Arts, Peer, Jackson, Matilda R., Scott, Hamish S., Eggers, Stefanie, Rowley, Simone, Boggs, Kirsten, Rakonjac, Ana, Brett, Gemma R., de Silva, Michelle G., Springer, Amanda, Ward, Michelle, Stallard, Kirsty, Simons, Cas, Conway, Thomas, Halman, Andreas, Van Bergen, Nicole J., Sikora, Tim, Semcesen, Liana N., Stroud, David A., Compton, Alison G., Thorburn, David R., Bell, Katrina M., Sadedin, Simon, North, Kathryn N., Christodoulou, John, Stark, Zornitza
المصدر: Nature Medicine ; volume 29, issue 7, page 1681-1691 ; ISSN 1078-8956 1546-170X
مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, General Medicine
الإتاحة: https://doi.org/10.1038/s41591-023-02401-9Test
https://www.nature.com/articles/s41591-023-02401-9.pdfTest
https://www.nature.com/articles/s41591-023-02401-9Test -
4دورية أكاديمية
المؤلفون: Lardelli, Rea M, Schaffer, Ashleigh E, Eggens, Veerle RC, Zaki, Maha S, Grainger, Stephanie, Sathe, Shashank, Van Nostrand, Eric L, Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Silhavy, Jennifer L, Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L, Markmiller, Sebastian, Marin-Valencia, Isaac, Davies, Justin H, de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Blaser, Susan, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Christesen, Henrik T, Kibaek, Maria, Aldinger, Kimberly A, Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B, Chi, Neil C, Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B, Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J, Yeo, Gene W, Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G
المصدر: Nature Genetics. 49(3)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Alleles, Animals, Cerebellar Diseases, Exonucleases, Female, Humans, Male, Mice, Mutation, Neurodegenerative Diseases, Nuclear Proteins, RNA, Messenger, RNA, Small Nuclear, Spliceosomes, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0xp8399tTest
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5دورية أكاديمية
المؤلفون: Ewans, Lisa J., Minoche, Andre E., Schofield, Deborah, Shrestha, Rupendra, Puttick, Clare, Zhu, Ying, Drew, Alexander, Gayevskiy, Velimir, Elakis, George, Walsh, Corrina, Adès, Lesley C., Colley, Alison, Ellaway, Carolyn, Evans, Carey-Anne, Freckmann, Mary-Louise, Goodwin, Linda, Hackett, Anna, Kamien, Benjamin, Kirk, Edwin P., Lipke, Michelle, Mowat, David, Palmer, Elizabeth, Rajagopalan, Sulekha, Ronan, Anne, Sachdev, Rani, Stevenson, William, Turner, Anne, Wilson, Meredith, Worgan, Lisa, Morel-Kopp, Marie-Christine, Field, Michael, Buckley, Michael F., Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony
المصدر: Ewans , L J , Minoche , A E , Schofield , D , Shrestha , R , Puttick , C , Zhu , Y , Drew , A , Gayevskiy , V , Elakis , G , Walsh , C , Adès , L C , Colley , A , Ellaway , C , Evans , C-A , Freckmann , M-L , Goodwin , L , Hackett , A , Kamien , B , Kirk , E P , Lipke , M , Mowat , D , Palmer , E , Rajagopalan , S , Ronan , A ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/s41431-022-01162-2Test
https://researchers.mq.edu.au/en/publications/d2de6326-e992-4426-8519-07963f01ee4bTest
https://research-management.mq.edu.au/ws/files/212369489/s41431_022_01162_2.pdfTest
http://www.scopus.com/inward/record.url?scp=85135899131&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: Teekakirikul, Polakit, Zhu, Wenjuan, Xu, Xinxiu, Young, Cullen B., Tan, Tuantuan, Smith, Amanda M., Wang, Chengdong, Peterson, Kevin A., Gabriel, George C., Ho, Sebastian, Sheng, Yi, de Bellaing, Anne Moreau, Sonnenberg, Daniel A., Lin, Jiuann-huey, Fotiou, Elisavet, Tenin, Gennadiy, Wang, Michael X., Wu, Yijen L., Feinstein, Timothy, Devine, William, Gou, Honglan, Bais, Abha S., Glennon, Benjamin J., Zahid, Maliha, Wong, Timothy C., Ahmad, Ferhaan, Rynkiewicz, Michael J., Lehman, William J., Keavney, Bernard, Alastalo, Tero-Pekka, Freckmann, Mary-Louise, Orwig, Kyle, Murray, Steve, Ware, Stephanie M., Zhao, Hui, Feingold, Brian, Lo, Cecilia W.
المساهمون: Pediatrics, School of Medicine
المصدر: PMC
مصطلحات موضوعية: CRISPR gene editing, Atrial septal defect, Embryonic lethality, Genetic resiliency, Induced pluripotent stem cell, Protective variant
وصف الملف: application/pdf
العلاقة: Cell Reports Medicine; Teekakirikul P, Zhu W, Xu X, et al. Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability. Cell Rep Med. 2022;3(2):100501. Published 2022 Feb 15. doi:10.1016/j.xcrm.2021.100501; https://hdl.handle.net/1805/33217Test
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7دورية أكاديمية
المؤلفون: Bournazos, Adam M., Riley, Lisa G., Bommireddipalli, Shobhana, Ades, Lesley, Akesson, Lauren S., Al-Shinnag, Mohammad, Alexander, Stephen I., Archibald, Alison D., Balasubramaniam, Shanti, Berman, Yemima, Beshay, Victoria, Boggs, Kirsten, Bojadzieva, Jasmina, Brown, Natasha J., Bryen, Samantha J., Buckley, Michael F., Chong, Belinda, Davis, Mark R., Dawes, Ruebena, Delatycki, Martin, Donaldson, Liz, Downie, Lilian, Edwards, Caitlin, Edwards, Matthew, Engel, Amanda, Ewans, Lisa J., Faiz, Fathimath, Fennell, Andrew, Field, Michael, Freckmann, Mary-Louise, Gallacher, Lyndon, Gear, Russell, Goel, Himanshu, Goh, Shuxiang, Goodwin, Linda, Hanna, Bernadette, Harraway, James, Higgins, Megan, Ho, Gladys, Hopper, Bruce K., Horton, Ari E., Hunter, Matthew F., Huq, Aamira J., Josephi-Taylor, Sarah, Joshi, Himanshu, Kirk, Edwin, Krzesinski, Emma, Kumar, Kishore R., Lemckert, Frances, Leventer, Richard J.
المصدر: Genetics in Medicine ; volume 24, issue 1, page 130-145 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2021.09.001Test
https://api.elsevier.com/content/article/PII:S1098360021041289?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021041289?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, Anne Marie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Vermeulen, R. Jeroen, Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, Thorburn, David R.
المصدر: Frazier , A E , Compton , A G , Kishita , Y , Hock , D H , Welch , A M E , Amarasekera , S S C , Rius , R , Formosa , L E , Imai-Okazaki , A , Francis , D , Wang , M , Lake , N J , Tregoning , S , Jabbari , J S , Lucattini , A , Nitta , K R , Ohtake , A , Murayama , K , Amor , D J , McGillivray , G , Wong , F Y , van der ....
الإتاحة: https://doi.org/10.1016/j.medj.2020.06.004Test
https://research.vumc.nl/en/publications/1832e9e2-32f9-4c73-848a-8df349686c9dTest
http://www.scopus.com/inward/record.url?scp=85108532087&partnerID=8YFLogxKTest -
9دورية أكاديمية
المؤلفون: Shah, Margit, Selvanathan, Arthavan, Baynam, Gareth, Berman, Yemima, Boughtwood, Tiffany, Freckmann, Mary‐Louise, Parasivam, Gayathri, White, Susan M, Roberts, Natalie J, Kirk, Edwin P, Ma, Alan SL, Sachdev, Rani
المصدر: Journal of Paediatrics and Child Health ; volume 58, issue 1, page 8-15 ; ISSN 1034-4810 1440-1754
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10دورية أكاديمية
المؤلفون: Sachdev, Rani, Field, Mike, Baynam, Gareth S, Beilby, John, Berarducci, Maria, Berman, Yemima, Boughtwood, Tiffany, Cusack, Marie B, Fitzgerald, Vanessa, Fletcher, Jeffery, Freckmann, Mary‐Louise, Roberts, Natalie J, Kirk, Edwin, Lundie, Ben, Lunke, Sebastian, McGregor, Lesley, Mowat, David, Parasivam, Gayathri, Tyrell, Vanessa, Wallis, Mathew, White, Susan M, S L Ma, Alan
المصدر: Journal of Paediatrics and Child Health ; volume 57, issue 4, page 477-483 ; ISSN 1034-4810 1440-1754
