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1دورية أكاديمية
المؤلفون: Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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2دورية أكاديميةMapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching
المؤلفون: Jennine M. Dawicki-McKenna, Alex J. Felix, Elisa A. Waxman, Congsheng Cheng, Defne A. Amado, Paul T. Ranum, Alexey Bogush, Lea V. Dungan, Jean Ann Maguire, Alyssa L. Gagne, Elizabeth A. Heller, Deborah L. French, Beverly L. Davidson, Benjamin L. Prosser
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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3دورية أكاديمية
المؤلفون: Madison B. Wilken, Jean Ann Maguire, Lea V. Dungan, Alyssa Gagne, Catherine Osorio-Quintero, Elisa A Waxman, Stella T. Chou, Paul Gadue, Deborah L. French, Christopher S. Thom
المصدر: Stem Cell Research, Vol 71, Iss , Pp 103161- (2023)
مصطلحات موضوعية: Biology (General), QH301-705.5
العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506123001472Test; https://doaj.org/toc/1873-5061Test; https://doaj.org/article/e8645c9d5bba40dc98d876e215e79737Test
الإتاحة: https://doi.org/10.1016/j.scr.2023.103161Test
https://doaj.org/article/e8645c9d5bba40dc98d876e215e79737Test -
4دورية أكاديمية
المؤلفون: Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
المصدر: EMBO Molecular Medicine, Vol 15, Iss 3, Pp n/a-n/a (2023)
مصطلحات موضوعية: drug screening, formylglycine‐generating enzyme, lysosomal disorder, retinoids, sulfatase‐modifying factor 1, Medicine (General), R5-920, Genetics, QH426-470
العلاقة: https://doi.org/10.15252/emmm.202114837Test; https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test; https://doaj.org/article/b678e69f8129428e87e0aebc0aa61cd4Test
الإتاحة: https://doi.org/10.15252/emmm.202114837Test
https://doaj.org/article/b678e69f8129428e87e0aebc0aa61cd4Test -
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المؤلفون: Madison B Wilken, Jean Ann Maguire, Lea V Dungan, Alyssa Gagne, Catherine Osorio-Quintero, Elisa A Waxman, Stella T Chou, Paul Gadue, Deborah L French, Christopher S Thom
المصدر: bioRxiv
مصطلحات موضوعية: Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::785455221ac6bd2e87bad3434f88f24bTest
https://doi.org/10.1101/2023.05.03.539242Test -
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المؤلفون: Irene Antony, Elizabeth D. Buttermore, Gerarda Cappuccio, Juan Cruz Casabona, Gareth Chapman, Ivy Pin-Fang Chen, Harue Chou, Laurence Daheron, Alfred K. Dei-Ampeh, Thomas M. Durcan, Sandra J. Engle, Patrick Faloon, Kevin T. FitzGerald, Deborah L. French, James Giordano, Madison R. Glass, Komal Kaushik, Robin J. Kleiman, Teun Klein Gunnewiek, Kristen L. Kroll, Felix A. Kyere, Herbert M. Lachman, Brooke Latour, Mirjana Maletic-Savatic, Xiaobo Mao, Abigail Mariga, Gilles Maussion, Kesavan Meganathan, Swati Mishra, Nael Nadif Kasri, Andrew Petersen, Luisa Pimentel, Ramachandran Prakasam, Aiko Robert, Cecilia Rocha, Manuj Shah, Jason L. Stein, Maria Sundberg, Rik Van Der Kant, Coen Van Deursen, Elisa A. Waxman, Samantha Wu, Mingyao Ying, Damian W. Young, Jessica E. Young
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::54858eaa91d9b0c887066db49c4fb4e5Test
https://doi.org/10.1016/b978-0-12-822277-5.01002-6Test -
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المؤلفون: Jennine M. Dawicki-McKenna, Alex J. Felix, Elisa A. Waxman, Congsheng Cheng, Defne A. Amado, Paul T. Ranum, Alexey Bogush, Lea V. Dungan, Elizabeth A. Heller, Deborah L. French, Beverly L. Davidson, Benjamin L. Prosser
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ff3573b477e2d2714aa22d782a385d7Test
https://doi.org/10.1101/2022.07.15.500219Test -
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المؤلفون: Lars Schlotawa, Matthias Kettwig, Rebecca Ahrens-Nicklas, Matthias Baud, Nicola Brunetti-Pierri, Alyssa Gagne, Sophie Schroeder, Jilenia Monfregula, Tonatiuh Pena, Karthikeyan Radhakrishnan, Elisa A. Waxman, André Fischer, Deborah L. French, Michael H. Gelb, Jutta Gaertner
المصدر: Molecular Genetics and Metabolism. 138:107308
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::80d449e04d4d412257a42409db312ac6Test
https://doi.org/10.1016/j.ymgme.2022.107308Test -
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المؤلفون: Elisa A. Waxman
مصطلحات موضوعية: chemistry.chemical_classification, Antioxidant, medicine.medical_treatment, Dopaminergic, Repressor, Substantia nigra, medicine.disease_cause, Cell biology, Enzyme, chemistry, medicine, Antioxidant Response Elements, Inducer, Oxidative stress
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29e0a01dc00b68463c9b4f6e961b907cTest