المؤلفون: Schnitzler, Gavin R.^{Aff1, Aff2, Aff3}, Kang, Helen^{Aff4, Aff5}, Fang, Shi^{Aff1, Aff3}, Angom, Ramcharan S., Lee-Kim, Vivian S.^{Aff1, Aff3}, Ma, X. Rosa^{Aff4, Aff5}, Zhou, Ronghao^{Aff4, Aff5}, Zeng, Tony^{Aff4, Aff5}, Guo, Katherine^{Aff4, Aff5}, Taylor, Martin S., Vellarikkal, Shamsudheen K.^{Aff1, Aff3}, Barry, Aurelie E.^{Aff1, Aff3}, Sias-Garcia, Oscar^{Aff1, Aff3}, Bloemendal, Alex^{Aff1, Aff2}, Munson, Glen, Guckelberger, Philine, Nguyen, Tung H., Bergman, Drew T.^{Aff1, Aff8}, Hinshaw, Stephen, Cheng, Nathan, Cleary, Brian^{Aff1, Aff10}, Aragam, Krishna^{Aff1, Aff11}, Lander, Eric S.^{Aff1, Aff12, Aff13}, Finucane, Hilary K.^{Aff1, Aff14, Aff15, Aff16}, Mukhopadhyay, Debabrata, Gupta, Rajat M.^{Aff1, Aff2, Aff3, IDs4158602407022x_cor26}, Engreitz, Jesse M.^{Aff1, Aff2, Aff4, Aff5, Aff17, IDs4158602407022x_cor27}

المصدر: Nature: International weekly journal of science. 626(8000):799-807

المؤلفون: Gavin R. Schnitzler, Helen Kang, Shi Fang, Ramcharan S. Angom, Vivian S. Lee-Kim, X. Rosa Ma, Ronghao Zhou, Tony Zeng, Katherine Guo, Martin S. Taylor, Shamsudheen K. Vellarikkal, Aurelie E

المصدر: Nature, Nature. 626(8000):799-807

الإتاحة: https://ideas.repec.org/a/nat/nature/v626y2024i8000d10.1038_s41586-024-07022-x.html

المؤلفون: Kang, Hyuckjoon, Cabrera, Janel R., Zee, Barry M., Kang, Heather A., Jobe, Jenny Marie, Hegarty, Maeve B., Barry, Aurelie E., Glotov, Alexander, Schwartz, Yuri B., Kuroda, Mitzi I.

المصدر: Science Advances. 8(36)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-199459
https://doi.org/10.1126/sciadv.add0103
https://umu.diva-portal.org/smash/get/diva2:1698887/FULLTEXT01.pdf

المؤلفون: Hyuckjoon Kang, Janel R. Cabrera, Barry M. Zee, Heather A. Kang, Jenny Marie Jobe, Maeve B. Hegarty, Aurelie E. Barry, Alexander Glotov, Yuri B. Schwartz, Mitzi I. Kuroda

المصدر: Science Advances. 8

مصطلحات موضوعية: Multidisciplinary, Genetics, Genetik

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb1affeebcace7d46bb6700a421f9d8
https://doi.org/10.1126/sciadv.add0103

المؤلفون: Charlotte Gaupp, Benjamin Schmid, Philipp Tripal, Aurélie Edwards, Christoph Daniel, Stefan Zimmermann, Margarete Goppelt-Struebe, Carsten Willam, Seymour Rosen, Gunnar Schley

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/d556644488c64dfabdd56ca82c5dd2ca

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: classic galactosemia, brain, galactose, cognitive problems, neurodevelopment, movement disorders, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1355962/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8

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المؤلفون: Anna Niewiadomska-Cimicka, Lorraine Fievet, Magdalena Surdyka, Ewelina Jesion, Céline Keime, Elisabeth Singer, Aurélie Eisenmann, Zaneta Kalinowska-Poska, Hoa Huu Phuc Nguyen, Agnieszka Fiszer, Maciej Figiel, Yvon Trottier

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 8, p 4354 (2024)

مصطلحات موضوعية: CAG-targeting therapy, allele selectivity, short hairpin RNA, adeno-associated virus, CAG repeat expansion, Spinocerebellar ataxia, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/25/8/4354; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/4e2d6384325841c7a1537de20931963b

المؤلفون: Anna Niewiadomska-Cimicka, Antoine Hache, Stéphanie Le Gras, Céline Keime, Tao Ye, Aurelie Eisenmann, Imen Harichane, Michel J. Roux, Nadia Messaddeq, Emmanuelle Clérin, Thierry Léveillard, Yvon Trottier

المصدر: Journal of Biomedical Science, Vol 29, Iss 1, Pp 1-23 (2022)

مصطلحات موضوعية: Spinocerebellar ataxia type 7, Photoreceptor dystrophy, SAGA, Epigenomics, Transcriptomics, Neuronal identity, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1423-0127

URL الوصول: https://doaj.org/article/fe31de53419248fabcb1c3dfd9b45723