المؤلفون: O. A. Levchenko, G. E. Rudenskaya, T. V. Markova, L. A. Bessonova, A. V. Marakhonov, S. E. Nagieva, O. A. Shchagina, A. V. Lavrov

المصدر: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 67, Iss 1, Pp 101-107 (2022)

مصطلحات موضوعية: дети, умственная отсталость, mrfacd, ген med13l, массовое параллельное секвенирование, гонадный мозаицизм, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.ped-perinatology.ru/jour/article/view/1586Test; https://doaj.org/toc/1027-4065Test; https://doaj.org/toc/2500-2228Test

الوصول الحر: https://doaj.org/article/4f86f1a426ea456da78df98b39a66d3cTest

المؤلفون: Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Živilė Maldžienė, Aušra Sasnauskienė, Vilmantė Žitkutė, Laima Ambrozaitytė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė

المصدر: Medicina; Volume 59; Issue 7; Pages: 1225

مصطلحات موضوعية: MED13L haploinsufficiency syndrome, intellectual disability, congenital anomalies, molecular and functional analysis, CRISPR-Cas9

وصف الملف: application/pdf

العلاقة: Genetics; https://dx.doi.org/10.3390/medicina59071225Test

الإتاحة: https://doi.org/10.3390/medicina59071225Test

المؤلفون: Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Maldžienė, Živilė, Sasnauskienė, Aušra, Žitkutė, Vilmantė, Ambrozaitytė, Laima, Rančelis, Tautvydas, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė

المصدر: Medicina., Basel : MDPI, 2023, vol. 59, iss. 7, art. no. 1225, p. [1-14]. ; ISSN 1010-660X ; eISSN 1648-9144

مصطلحات موضوعية: MED13L haploinsufficiency syndrome, intellectual disability, congenital anomalies, molecular and functional analysis, CRISPR-Cas9

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:171055599/171055599.pdfTest; https://repository.vu.lt/VU:ELABAPDB171055599&prefLang=en_USTest

الإتاحة: https://doi.org/10.3390/medicina59071225Test
https://repository.vu.lt/VU:ELABAPDB171055599&prefLang=en_USTest

المؤلفون: Sardar, Samra, Kanne, Katrine, Andersson, Åsa, 1960

المصدر: Archivum Immunologiae et Therapiae Experimentalis. 66(5):365-377

مصطلحات موضوعية: MED13L, THRAP2, mediator complex, Collagen-induced arthritis, Rheumatoid Arthritis, congenic mice

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-36795Test
https://doi.org/10.1007/s00005-018-0516-8Test
https://hh.diva-portal.org/smash/get/diva2:1209094/FULLTEXT01.pdfTest

المؤلفون: Smol, Thomas, Frenois, Frederic, Manouvrier, Sylvie, Petit, Florence, Ghoumid, Jamal

المساهمون: Université de Lille, CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille

مصطلحات موضوعية: MED13L, Missense, Conservation, In-silico algorithm, Variant interpretation

وصف الملف: application/octet-stream

العلاقة: European Journal of Medical Genetics; Eur J Med Genet; http://hdl.handle.net/20.500.12210/84165Test

الإتاحة: https://doi.org/20.500.12210/84165Test
https://hdl.handle.net/20.500.12210/84165Test

المؤلفون: Zhi Yi, Ying Zhang, Zhenfeng Song, Hong Pan, Chengqing Yang, Fei Li, Jiao Xue, Zhenghai Qu

المصدر: Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: MED13L, Missense mutation, Intellectual disability, Speech impairment, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13052-020-00847-yTest; https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/7235b35b5cbb494b80ecd4cd332c9dd5Test

المؤلفون: Tørring, Pernille Mathiesen, Larsen, Martin Jakob, Brasch-Andersen, Charlotte, Krogh, Lotte Nylandsted, Kibæk, Maria, Laulund, Lone, Illum, Niels, Dunkhase-Heinl, Ulrike, Wiesener, Antje, Popp, Bernt, Marangi, Giuseppe, Hjortshøj, Tina Duelund, Ek, Jakob, Vogel, Ida, Becher, Naja, Roos, Laura, Zollino, Marcella, Fagerberg, Christina Ringmann

المصدر: Tørring , P M , Larsen , M J , Brasch-Andersen , C , Krogh , L N , Kibæk , M , Laulund , L , Illum , N , Dunkhase-Heinl , U , Wiesener , A , Popp , B , Marangi , G , Hjortshøj , T D , Ek , J , Vogel , I , Becher , N , Roos , L , Zollino , M & Fagerberg , C R 2019 , ' Is MED13L-related intellectual disability a recognizable syndrome? ' , European Journal of Medical Genetics , vol. 62 , no. 2 ....

مصطلحات موضوعية: Developmental delay, Intellectual disability, MED13L, MED13L haploinsufficiency syndrome, MED13L-related intellectual disability

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/256b0090-08ad-45f5-ac46-95dce8e86aa8Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2018.06.014Test
https://portal.findresearcher.sdu.dk/da/publications/256b0090-08ad-45f5-ac46-95dce8e86aa8Test
https://findresearcher.sdu.dk/ws/files/143341944/Is_MED13L_related_intellectual_disability_a_recognizable_syndrome.pdfTest

المؤلفون: Kuuluvainen, Emilia, Domenech-Moreno, Eva, Niemela, Elina H., Makela, Tomi P.

المساهمون: Centre of Excellence in Stem Cell Metabolism, Helsinki Institute of Life Science HiLIFE, Joint Activities, Research Programs Unit, Helsinki Institute of Life Science HiLIFE, Medicum, Mäkelä Lab

مصطلحات موضوعية: BRD4, CDK19, CDK8, cancer, MED12, MED13, MED13L, Mediator, superenhancer, transcription, SUPER-ENHANCERS, TRANSCRIPTION FACTORS, SELECTIVE-INHIBITION, COLORECTAL-CANCER, EXPRESSION, RNA, MICE, ELONGATION, LEUKEMIA, 1182 Biochemistry, cell and molecular biology

وصف الملف: application/pdf

العلاقة: This work was supported by grants from the Academy of Finland (projects 1259278 and 12718454), Biocentrum Helsinki, Finnish cancer organizations, and the Sigrid Juselius Foundation to T.P.M. and by grants from Svenska Kulturfonden, the K. Albin Johansson Foundation, the Oskar Oflund Foundation, the Biomedicum Helsinki Foundation, the Ida Montin Foundation, and the Paulo Foundation to E.K.; Kuuluvainen , E , Domenech-Moreno , E , Niemela , E H & Makela , T P 2018 , ' Depletion of Mediator Kinase Module Subunits Represses Superenhancer-Associated Genes in Colon Cancer Cells ' , Molecular and Cellular Biology , vol. 38 , no. 12 , UNSP e00573-17 . https://doi.org/10.1128/MCB.00573-17Test; ORCID: /0000-0002-2562-1060/work/45439411; ORCID: /0000-0002-4869-8044/work/45438977; 85046945273; 6f4529f4-ab6e-4b0f-aa34-1aa355504f67; http://hdl.handle.net/10138/298268Test; 000432179500006

الإتاحة: http://hdl.handle.net/10138/298268Test

المؤلفون: Zachary C. Poss, Christopher C. Ebmeier, Aaron T. Odell, Anupong Tangpeerachaikul, Thomas Lee, Henry E. Pelish, Matthew D. Shair, Robin D. Dowell, William M. Old, Dylan J. Taatjes

المصدر: Cell Reports, Vol 15, Iss 2, Pp 436-450 (2016)

مصطلحات موضوعية: CDK8-Mediator, Mediator, SILAC, cholesterol, MED13, MED13L, SIRT1, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124716302868Test; https://doaj.org/toc/2211-1247Test

الوصول الحر: https://doaj.org/article/5d3ce4cfad3a4795abef5531aa404cc4Test

المؤلفون: Smol, Thomas

المساهمون: Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université de Lille, Sylvie Manouvrier, Jamal Ghoumid, STAR, ABES

المصدر: Médecine humaine et pathologie. Université de Lille, 2021. Français. ⟨NNT : 2021LILUS066⟩

مصطلحات موضوعية: [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Complex mediator, Deficience intellectuelle, Intellectual disability, Mediator complex, Med13l, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::34797b64fe2a4b0ece10d0be17609289Test
https://theses.hal.science/tel-03714135/file/2021LILUS066.pdfTest