المؤلفون: Alba Muniesa-Vargas, Carlota Davó-Martínez, Cristina Ribeiro-Silva, Melanie van der Woude, Karen L. Thijssen, Ben Haspels, David Häckes, Ülkem U. Kaynak, Roland Kanaar, Jurgen A. Marteijn, Arjan F. Theil, Maayke M. P. Kuijten, Wim Vermeulen, Hannes Lans

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/93db3bf48b4e441887ae6a50279dcc97Test

المؤلفون: Barbara Steurer, Roel C. Janssens, Marit E. Geijer, Fernando Aprile-Garcia, Bart Geverts, Arjan F. Theil, Barbara Hummel, Martin E. van Royen, Bastiaan Evers, René Bernards, Adriaan B. Houtsmuller, Ritwick Sawarkar, Jurgen Marteijn

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/8ae0ddc4ec8841d3a8a8b7435095a252Test

المؤلفون: Namrata Kumar, Arjan F. Theil, Vera Roginskaya, Yasmin Ali, Michael Calderon, Simon C. Watkins, Ryan P. Barnes, Patricia L. Opresko, Alex Pines, Hannes Lans, Wim Vermeulen, Bennett Van Houten

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/677d2112db5041e7bd30b5fcd641a24aTest

المؤلفون: Cristina Ribeiro-Silva, Mariangela Sabatella, Angela Helfricht, Jurgen A. Marteijn, Arjan F. Theil, Wim Vermeulen, Hannes Lans

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/22a70086ef524db897815d6000e52c4eTest

المؤلفون: Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D. Gareth Evans, Anja Raams, Arjan F. Theil, Stefan Meyer, Detlev Schindler

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: Fanconi anemia, UV sensitivity, XPF, ERCC4, FANCQ, DNA repair, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-018-0520-1Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/93c4b2d6ae9b43e6ab30e0d0bb56dc55Test

المؤلفون: Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen

المصدر: EMBO Molecular Medicine, Vol 15, Iss 11, Pp n/a-n/a (2023)

مصطلحات موضوعية: brittle hair phenotype, epithelial barrier function, mRNA splicing, skin differentiation, TTDN1, Medicine (General), R5-920, Genetics, QH426-470

العلاقة: https://doi.org/10.15252/emmm.202317973Test; https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test; https://doaj.org/article/00a4d41179d0455f867ed390b4be7d8bTest

الإتاحة: https://doi.org/10.15252/emmm.202317973Test
https://doaj.org/article/00a4d41179d0455f867ed390b4be7d8bTest

المؤلفون: Elena Botta, Arjan F Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Maria Accadia, Anita Lombardi, Desiree E C Smith, Marisa I Mendes, Sigrid M A Swagemakers, Peter J Van Der Spek, Gajja S Salomons, Jan H J Hoeijmakers, Dhanya Yesodharan, Sheela Nampoothiri, Tomoo Ogi, Alan Lehmann, Donata Orioli, Wim Vermeulen

مصطلحات موضوعية: Uncategorised value

العلاقة: 10779/uos.23486783.v1; https://figshare.com/articles/journal_contribution/Protein_instability_associated_with_AARS1_and_MARS1_mutations_causes_trichothiodystrophy/23486783Test

الإتاحة: https://figshare.com/articles/journal_contribution/Protein_instability_associated_with_AARS1_and_MARS1_mutations_causes_trichothiodystrophy/23486783Test

المؤلفون: Amytice Mirchi, Alexa Derksen, Luan T. Tran, Isabelle De Bie, Amélie Nadeau, Audrey Lovett, Anja Raams, Wim Vermeulen, Arjan F. Theil, Geneviève Bernard

المساهمون: Molecular Genetics

المصدر: Neurogenetics, 23(4), 271-274. Springer-Verlag

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Phenotype, Neurodevelopmental Disorders, Exome Sequencing, Genetics, Humans, Cockayne Syndrome, Genetics (clinical), Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f05b9edab3fd45f39698927ab6c0a5f6Test
https://pure.eur.nl/en/publications/fb0e0138-77c5-4359-9b50-404b096b26ccTest

المؤلفون: Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang

المساهمون: Molecular Genetics

المصدر: Pediatric Neurology, 141, 79-86. Elsevier Inc.

مصطلحات موضوعية: Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02740ae55b971306f4ea081d8bd64adTest
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69Test

المؤلفون: Marvin van Toorn, Yasemin Turkyilmaz, Sueji Han, Di Zhou, Hyun-Suk Kim, Irene Salas-Armenteros, Mihyun Kim, Masaki Akita, Franziska Wienholz, Anja Raams, Eunjin Ryu, Sukhyun Kang, Arjan F. Theil, Karel Bezstarosti, Maria Tresini, Giuseppina Giglia-Mari, Jeroen A. Demmers, Orlando D. Schärer, Jun-Hyuk Choi, Wim Vermeulen, Jurgen A. Marteijn

المساهمون: Erasmus University Medical Center [Rotterdam] (Erasmus MC), University of Science and Technology [Daejeon] (UST), Institute for Basic Science (IBS), Pusan National University, Ulsan National Institute of Science and Technology (UNIST), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Giglia-Mari, Ambra, Molecular Genetics, Biochemistry

المصدر: Molecular Cell
Molecular Cell, 2022, 82 (7), pp.1343-1358.e8. ⟨10.1016/j.molcel.2022.02.020⟩
Molecular Cell, 82(7), 1343-1358.e8. Cell Press
Mol Cell

مصطلحات موضوعية: DNA Replication, post-replication repair, DNA Repair, TFIIH, [SDV]Life Sciences [q-bio], damage eviction, DNA, Cell Biology, repair synthesis, HLTF, nucleotide excision repair, Article, UV damage response, DNA-Binding Proteins, [SDV] Life Sciences [q-bio], SDG 3 - Good Health and Well-being, DNA damage, Molecular Biology, genome stability

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b42fa9320b2050be0af7fd2f09dc7ffcTest
https://doi.org/10.1016/j.molcel.2022.02.020Test