يعرض 1 - 20 نتائج من 131 نتيجة بحث عن '"Bassett, J, H Duncan"', وقت الاستعلام: 0.65s تنقيح النتائج
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    وصف الملف: application/pdf

    Relation: https://ueaeprints.uea.ac.uk/id/eprint/92291/1/Kooblall_etal_2023_JBMRPlus.pdf; Kooblall, Kreepa G., Stevenson, Mark, Stewart, Michelle, Harris, Lachlan, Zalucki, Oressia, Dewhurst, Hannah, Butterfield, Natalie, Leng, Houfu, Hough, Tertius A., Ma, Da, Siow, Bernard, Potter, Paul, Cox, Roger D., Brown, Stephen D. M., Horwood, Nicole, Wright, Benjamin, Lockstone, Helen, Buck, David, Vincent, Tonia L., Hannan, Fadil M., Bassett, J. H. Duncan, Williams, Graham R., Lines, Kate E., Piper, Michael, Wells, Sara, Teboul, Lydia, Hennekam, Raoul C. and Thakker, Rajesh V. (2023) A mouse model with a frameshift mutation in the nuclear factor I/X (NFIX) gene has phenotypic features of Marshall-Smith syndrome. JBMR Plus, 7 (6). ISSN 2473-4039

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    المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), De la Préhistoire à l'Actuel : Culture, Environnement et Anthropologie (PACEA), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), LL was funded by a Fondation pour la Recherche Médicale “Fondation pour les maladies rares” grant, number PLP20161036666. This research program received a state subsidy managed by the French NationalResearch Agency as part of the “Investments for the Future” program (reference ANR-10-IAHU-01). This work was supported by a Wellcome Trust Investigator Award (110141/Z/15/Z) and a Medical Research Council Research Grant (MR/W018950/1) to JHDB and GRW. DC is funded by Research Council of Hong Kong (A_HKU704/19). LLM is funded by French National Research Agency PRCI program (FANTASIA). For generation of the mouse model, LLM was funded by SYBIL - European Community’s Seventh Framework Programme FP7/2007-2013 under grant agreement 602300., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 602300,EC:FP7:HEALTH,FP7-HEALTH-2013-INNOVATION-1,SYBIL(2013)

    المصدر: ISSN: 2379-3708 ; JCI Insight ; https://hal.science/hal-04445005 ; JCI Insight, 2023, 8, ⟨10.1172/jci.insight.168796⟩.

    مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

    Relation: info:eu-repo/grantAgreement/EC/FP7/602300/EU/Systems biology for the functional validation of genetic determinants of skeletal diseases/SYBIL; hal-04445005; https://hal.science/hal-04445005; https://hal.science/hal-04445005/document; https://hal.science/hal-04445005/file/Loisay%20et%20al%202023.pdf

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    المساهمون: Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA), Laboratoire de PhysioMédecine Moléculaire (LP2M), Imperial College London, Fondation Jérôme Lejeune #1944, Fondation ARC Project PJA 20191209289, ANR-15-CE14-0017,LOCALDO,Mécanismes du contrôle LOCal de la production de l'ALDOstérone dans la glande surrénale et leur importance dans la pathogénèse de l'hyperaldosteronisme primaire(2015)

    المصدر: ISSN: 2768-0622 ; Clinical and Translational Discovery ; https://hal.science/hal-03838818 ; Clinical and Translational Discovery, 2022, 2 (3), pp.e113. ⟨10.1002/ctd2.113⟩.

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    Relation: Frontiers in Endocrinology; Foessl, Bassett, Bjørnerem, Busse, Calado, Chavassieux, Christou, Douni, Fiedler, Fonseca, Hassler, Högler, Kague, Karasik, Khashayar, Langdahl, Leitch, Lopes, Markozannes, McGuigan, Medina-Gomez, Ntzani, Oei, Ohlsson, Szulc, Tobias, Trajanoska, Tuzun, Valjevac, van Rietbergen, Williams, Zekic, Rivadeneira, Obermayer-Pietsch. Bone Phenotyping Approaches in Human, Mice and Zebrafish – Expert Overview of the EU Cost Action GEMSTONE (“GEnomics of MusculoSkeletal traits TranslatiOnal NEtwork”). Frontiers in Endocrinology. 2021;12; FRIDAID 1973686; https://hdl.handle.net/10037/23905

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    المساهمون: Rauner, Martina, Baschant, Ulrike, Roetto, Antonella, Pellegrino, Rosa Maria, Rother, Sandra, Salbach-Hirsch, Juliane, Weidner, Heike, Hintze, Vera, Campbell, Graeme, Petzold, Andrea, Lemaitre, Regi, Henry, Ian, Bellido, Teresita, Theurl, Igor, Altamura, Sandro, Colucci, Silvia, Muckenthaler, Martina U., Schett, Georg, Komla-Ebri, Davide S. K., Bassett, J. H. Duncan, Williams, Graham R., Platzbecker, Uwe, Hofbauer, Lorenz C.

    Relation: info:eu-repo/semantics/altIdentifier/pmid/30886999; info:eu-repo/semantics/altIdentifier/wos/WOS:000500725600015; volume:1; issue:1; firstpage:111; lastpage:124; numberofpages:14; journal:NATURE METABOLISM; http://hdl.handle.net/2318/1697253; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85064080845; https://doi.org/10.1038/s42255-018-0005-8

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    المؤلفون: Medina-Gomez, Carolina, Kemp, John P., Trajanoska, Katerina, Luan, Jian'an, Chesi, Alessandra, Ahluwalia, Tarunveer S., Mook-Kanamori, Dennis O., Ham, Annelies, Hartwig, Fernando P., Evans, Daniel S., Joro, Raimo, Nedeljkovic, Ivana, Zheng, Hou-Feng, Zhu, Kun, Atalay, Mustafa, Liu, Ching-Ti, Nethander, Maria, Broer, Linda, Porleifsson, Gudmar, Mullin, Benjamin H., Handelman, Samuel K., Nalls, Mike A., Jessen, Leon E., Heppe, Denise H. M., Richards, J. Brent, Wang, Carol, Chawes, Bo, Schraut, Katharina E., Amin, Najaf, Wareham, Nick, Karasik, David, Van der Velde, Nathalie, Ikram, M. Arfan, Zemel, Babette S., Zhou, Yanhua, Carlsson, Christian J., Liu, Yongmei, McGuigan, Fiona E., Boer, Cindy G., Bonnelykke, Klaus, Ralston, Stuart H., Robbins, John A., Walsh, John P., Zillikens, M. Carola, Langenberg, Claudia, Li-Gao, Ruifang, Williams, Frances M. K., Harris, Tamara B., Akesson, Kristina, Jackson, Rebecca D., Sigurdsson, Gunnar, den Heijer, Martin, van der Eerden, Bram C. J., van de Peppel, Jeroen, Spector, Timothy D., Pennell, Craig, Horta, Bernardo L., Felix, Janine F., Zhao, Jing Hua, Wilson, Scott G., de Mutsert, Renee, Bisgaard, Hans, Styrkarsdottir, Unnur, Jaddoe, Vincent W., Orwoll, Eric, Lakka, Timo A., Scott, Robert, Grant, Struan F. A., Lorentzon, Mattias, van Duijn, Cornelia M., Wilson, James F., Stefansson, Kari, Psaty, Bruce M., Kiel, Douglas P., Ohlsson, Claes, Ntzani, Evangelia, van Wijnen, Andre J., Forgetta, Vincenzo, Ghanbari, Mohsen, Logan, John G., Williams, Graham R., Bassett, J. H. Duncan, Croucher, Peter I., Evangelou, Evangelos, Uitterlinden, Andre G., Ackert-Bicknell, Cheryl L., Tobias, Jonathan H., Evans, David M., Rivadeneira, Fernando

    المصدر: Medina-Gomez , C , Kemp , J P , Trajanoska , K , Luan , J , Chesi , A , Ahluwalia , T S , Mook-Kanamori , D O , Ham , A , Hartwig , F P , Evans , D S , Joro , R , Nedeljkovic , I , Zheng , H-F , Zhu , K , Atalay , M , Liu , C-T , Nethander , M , Broer , L , Porleifsson , G , Mullin , B H , Handelman , S K , Nalls , M A , Jessen , L ....

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    المصدر: Kemp , J P , Medina-Gomez , C , Forgetta , V , Warrington , N M , Youlten , S E , Zheng , J , Gregson , C L , Grundberg , E , Trajanoska , K , Logan , J G , Pollard , A S , Sparkes , P C , Ghirardello , E J , Leitch , V D , Butterfield , N C , Komla-Ebri , D , Adoum , A-T , Curry , K F , White , J K , Kussy , F , Greenlaw , K M , Xu , ....

    وصف الملف: application/pdf

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    المصدر: Hameed , S , Patterson , M , Dhillo , W S , Rahman , S A , Ma , Y , Holton , C , Gogakos , A , Yeo , G S H , Lam , B Y H , Polex-Wolf , J , Fenske , W , Bell , J D , Anastasovska , J , Samarut , J , Bloom , S R , Bassett , J H D , Williams , G R & Gardiner , J V 2017 , ' Thyroid Hormone Receptor Beta in the Ventromedial Hypothalamus Is Essential for the Physiological ....

    مصطلحات موضوعية: Journal Article

    وصف الملف: application/pdf

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