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1دورية أكاديمية
المؤلفون: Brull, Astrid, Sarathy, Apurva, Bolduc, Véronique, Chen, Grace S., McCarty, Riley M., Bönnemann, Carsten G.
المساهمون: National Institute of Neurological Disorders and Stroke, Cure CMD
المصدر: Molecular Therapy - Nucleic Acids ; volume 35, issue 2, page 102178 ; ISSN 2162-2531
مصطلحات موضوعية: Drug Discovery, Molecular Medicine
الإتاحة: https://doi.org/10.1016/j.omtn.2024.102178Test
https://api.elsevier.com/content/article/PII:S2162253124000659?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2162253124000659?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Bolduc, Véronique, Minor, Katie M, Hu, Ying, Kaur, Rupleen, Friedenberg, Steven G, Van Buren, Samantha, Guo, Ling T, Glennon, Joseph C, Marioni-Henry, Katia, Mickelson, James R, Bönnemann, Carsten G, Shelton, G Diane
المصدر: Neuromuscular Disorders. 30(5)
مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Muscular Dystrophy, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Animals, Collagen Type VI, Dogs, Female, Male, Muscular Dystrophies, Pedigree, Whole Genome Sequencing, Canine, Muscle, Myopathy, Collagen VI, Clinical Sciences, Neurosciences, Neurology & Neurosurgery, Clinical sciences, Biological psychology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4rk0j85mTest
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3دورية أكاديمية
المؤلفون: Freiburg, Carolin D, Solomon-Degefa, Herimela, Freiburg, Patrick, Mörgelin, Matthias, Bolduc, Véronique, Schmitz, Sebastian, Ala, Pierpaolo, Muntoni, Francesco, Behrmann, Elmar, Bönnemann, Carsten G, Schiavinato, Alvise, Paulsson, Mats, Wagener, Raimund
المصدر: Human Mutation , 2023 , Article 6892763. (2023)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10177022/1/6892763.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10177022Test/
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4دورية أكاديمية
المؤلفون: Cummings, Beryl B., Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O'Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad J., O'Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bonnemann, Carsten G., MacArthur, Daniel G., GTEx Consortium, Han, Buhm
المساهمون: Han, Buhm
مصطلحات موضوعية: ENHANCERS ESES, RNA-SEQ, MUTATIONS, VARIANTS, GUIDELINES, TOOL
العلاقة: Science Translational Medicine, Vol.9 No.386, p. eaal5209; https://hdl.handle.net/10371/191533Test; 000399454600005; 2-s2.0-85018570855; 181323
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5رسالة جامعية
المؤلفون: Bolduc, Véronique
مرشدي الرسالة: Brais, Bernard
مصطلحات موضوعية: Dystrophie musculaire des ceintures, Muscular dystrophy, LGMD, ANO5, Anoctamin, Cartographie par homozygotie, Homozygosity mapping, Biology - Genetics / Biologie - Génétique (UMI : 0369)
الإتاحة: http://hdl.handle.net/1866/6316Test
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6دورية أكاديمية
المؤلفون: Donkervoort, Sandra, van de Locht, Martijn, Ronchi, Dario, Reunert, Janine, McLean, Catriona A., Zaki, Maha, Orbach, Rotem, de Winter, Josine M., Conijn, Stefan, Hoomoedt, Daan, Neto, Osorio Lopes Abath, Magri, Francesca, Viaene, Angela N., Foley, A. Reghan, Gorokhova, Svetlana, Bolduc, Véronique, Hu, Ying, Acquaye, Nicole, Napoli, Laura, Park, Julien H., Immadisetty, Kalyan, Miles, Lee B., Essawi, Mona, McModie, Salar, Ferreira, Leonardo F., Zanotti, Simona, Neuhaus, Sarah B., Medne, Livija, ElBagoury, Nagham, Johnson, Kory R., Zhang, Yong, Laing, Nigel G., Davis, Mark R., Bryson-Richardson, Robert J., Hwee, Darren T., Hartman, James J., Malik, Fady I., Kekenes-Huskey, Peter M., Comi, Giacomo Pietro, Sharaf-Eldin, Wessam, Marquardt, Thorsten, Ravenscroft, Gianina, Bönnemann, Carsten G., Ottenheijm, Coen A. C.
المصدر: Science Translational Medicine ; volume 16, issue 741 ; ISSN 1946-6234 1946-6242
مصطلحات موضوعية: General Medicine
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7رسالة جامعية
المؤلفون: Bolduc, Véronique
مرشدي الرسالة: Busque, Lambert
مصطلحات موضوعية: Inactivation du chromosome X, Ratios d'inactivation, Mosaïcisme biaisé, HUMARA, Corrélation inter-tissus, Transmission, XIST
وصف الملف: application/pdf
الإتاحة: http://hdl.handle.net/1866/15580Test
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8دورية أكاديميةBET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
المؤلفون: Donkervoort, Sandra, Krause, Niklas, Dergai, Mykola, Yun, Pomi, Koliwer, Judith, Gorokhova, Svetlana, Hauserman, Janelle Geist, Cummings, Beryl B., Hu, Ying, Smith, Rosemarie, Uapinyoying, Prech, Ganesh, Vijay S., Ghosh, Partha S., Monaghan, Kristin G., Edassery, Seby L., Ferle, Pia, Silverstein, Sarah, Chao, Katherine R., Snyder, Molly, Ellingwood, Sara, Bharucha-Goebel, Diana, Iannaccone, Susan T., Dal Peraro, Matteo, Foley, A. Reghan, Savas, Jeffrey N., Bolduc, Veronique, Fasshauer, Dirk, Bonnemann, Carsten G., Schwake, Michael
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1757-4676; info:eu-repo/semantics/altIdentifier/issn/1757-4684; info:eu-repo/semantics/altIdentifier/wos/000718391400001; info:eu-repo/semantics/altIdentifier/pmid/34779586; https://nbn-resolving.org/urn:nbn:de:0070-pub-29594931Test; https://pub.uni-bielefeld.de/record/2959493Test; https://pub.uni-bielefeld.de/download/2959493/2962787Test
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9دورية أكاديمية
المؤلفون: Lopes Abath Neto, Osorio, Medne, Livija, Donkervoort, Sandra, Rodríguez-García, Maria Elena, Bolduc, Véronique, Hu, Ying, Guadagnin, Eleonora, Foley, A Reghan, Brandsema, John F, Glanzman, Allan M, Tennekoon, Gihan I, Santi, Mariarita, Berger, Justin H, Megeney, Lynn A, Komaki, Hirofumi, Inoue, Michio, Cotrina-Vinagre, Francisco Javier, Hernández-Lain, Aurelio, Martin-Hernández, Elena, Williams, Linford, Borell, Sabine, Schorling, David, Lin, Kimberly, Kolokotronis, Konstantinos, Lichter-Konecki, Uta, Kirschner, Janbernd, Nishino, Ichizo, Banwell, Brenda, Martínez-Azorín, Francisco, Burgon, Patrick G, Bönnemann, Carsten G
المساهمون: NIH National Institute of Neurological Disorders and Stroke, Spanish Instituto de Salud Carlos III, European Regional Development Fund, Instituto de Investigación Hospital 12 de Octubre, ISCIII, ERDF, Canadian Institutes of Health Research
المصدر: Brain ; volume 144, issue 9, page 2722-2731 ; ISSN 0006-8950 1460-2156
مصطلحات موضوعية: Neurology (clinical)
الإتاحة: https://doi.org/10.1093/brain/awab275Test
http://academic.oup.com/brain/article-pdf/144/9/2722/40880395/awab275.pdfTest -
10دورية أكاديمية
المؤلفون: Donkervoort, Sandra, Kutzner, Carl E., Hu, Ying, Lornage, Xaviere, Rendu, John, Stojkovic, Tanya, Baets, Jonathan, Neuhaus, Sarah B., Tanboon, Jantima, Maroofian, Reza, Bolduc, Veronique, Mroczek, Magdalena, Conijn, Stefan, Kuntz, Nancy L., Topf, Ana, Monges, Soledad, Lubieniecki, Fabiana, McCarty, Riley M., Chao, Katherine R., Governali, Serena, Bohm, Johann, Boonyapisit, Kanokwan, Malfatti, Edoardo, Sangruchi, Tumtip, Horkayne-Szakaly, Iren, Hedberg-Oldfors, Carola, Djeddi, Sarah, Iida, Aritoshi, di Rosa, Gabriella, Fiorillo, Chiara, Salpietro, Vincenzo, Darin, Niklas, Faure, Julien, Houlden, Henry, Oldfors, Anders, Nishino, Ichizo, De Ridder, Willem, Straub, Volker, Pokrzywa, Wojciech, Laporte, Jocelyn, Foley, A. Reghan, Romero, Norma B., Ottenheijm, Coen, Hoppe, Thorsten, Boennemann, Carsten G.
المصدر: 0002-9297 ; The American journal of human genetics
مصطلحات موضوعية: Human medicine
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000596042000005