檢索結果 - Daniela Q.C.M. Barge‐Schaapveld
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Reduced kinase function in two ultra‐rare <scp><i>TNNI3K</i></scp> variants in families with congenital junctional ectopic tachycardia 由 Caroline Pham, Tamara T. Koopmann, Jeffrey M. Vinocur, Nico A. Blom, Vivian Nogueira Silbiger, Kirti Mittal, Marianne Bootsma, Kaylin C. A. Palm, Sally‐Ann B. Clur, Daniela Q.C.M. Barge‐Schaapveld, Robert M. Hamilton, Elisabeth M. Lodder
出版 2024Artigo -
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Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature 由 Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia Ruivenkamp, Gijs W.E. Santen, Emilia Bijlsma, Daniela Q.C.M. Barge‐Schaapveld, Katrin Õunap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadiković, Marco Tartaglia
出版 2020Artigo -
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Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy 由 Johanna C. Herkert, Kristin M. Abbott, Erwin Birnie, Martine T. Meems-Veldhuis, Ludolf G. Boven, Marloes Benjamins, Gideon J. du Marchie Sarvaas, Daniela Q.C.M. Barge‐Schaapveld, J. Peter van Tintelen, Paul A. van der Zwaag, Yvonne J. Vos, Richard J. Sinke, Maarten P. van den Berg, Irene M. van Langen, Jan D.H. Jongbloed
出版 2018Artigo -
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A mutation update for the <i>FLNC</i> gene in myopathies and cardiomyopathies 由 Job A.J. Verdonschot, Els K. Vanhoutte, Godelieve R.F. Claes, Apollonia T. J. M. Helderman‐van den Enden, Janneke G. J. Hoeijmakers, Debby M.E.I. Hellebrekers, Amber de Haan, Imke Christiaans, Ronald H. Lekanne Deprez, Hanne M. Boen, Emeline M. Van Craenenbroeck, Bart Loeys, Yvonne M. Hoedemaekers, Carlo Marcelis, Marlies Kempers, Esther Brusse, Jaap I. van Waning, Annette F. Baas, Dennis Dooijes, Folkert W. Asselbergs, Daniela Q.C.M. Barge‐Schaapveld, Pieter Koopman, Arthur van den Wijngaard, Stéphane Heymans, Ingrid P.C. Krapels, Han G. Brunner
出版 2020Revisão -
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<i>Lamin A/C</i> -Related Cardiac Disease 由 Edgar T. Hoorntje, Ilse A. E. Bollen, Daniela Q.C.M. Barge‐Schaapveld, Florence H. van Tienen, Gerard J. te Meerman, Joeri A. Jansweijer, Anthonie J. van Essen, Paul G.A. Volders, Alina A. Constantinescu, Peter C. van den Akker, Karin Y. van Spaendonck‐Zwarts, Rogier A. Oldenburg, Carlo Marcelis, Jasper J. van der Smagt, Eric A. M. Hennekam, Aryan Vink, Marianne Bootsma, Emmelien Aten, Arthur A.M. Wilde, Arthur van den Wijngaard, Jos L. V. Broers, Jan D.H. Jongbloed, Jolanda van der Velden, Maarten P. van den Berg, J. Peter van Tintelen
出版 2017Artigo -
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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants 由 Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglæde, Diana Baralle, Daniela Q.C.M. Barge‐Schaapveld, Moira Blyth, Mieke C. Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valérie Cormier‐Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jørgensen, Sarina G. Kant, Cathy Kirally-Borri, David A. Koolen, Ajith Kumar, Anatália Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury‐Ecob, Daniela T. Pilz, Renata Posmyk, Carlos E. Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter D. Turnpenny, Lionel Van Maldergem, Vinod Varghese, Hermine E. Veenstra‐Knol, Naomi Yachelevich, Laura Yates, Nazneen Rahman
出版 2018Pré-impressão -
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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging 由 Elisabetta Flex, Simone Martinelli, Anke Van Dijck, Andrea Ciolfi, Serena Cecchetti, Elisa Coluzzi, Luca Pannone, C Andreoli, Francesca Clementina Radio, Simone Pizzi, Giovanna Carpentieri, Alessandro Bruselles, Giuseppina Catanzaro, Lucia Pedace, Evelina Miele, Elena Carcarino, Xiaoyan Ge, Chieko Chijiwa, M. E. Suzanne Lewis, Marije Meuwissen, Sandra Kenis, Nathalie Van der Aa, Austin Larson, Kathleen Brown, Melissa Wasserstein, Brian G. Skotko, Amber Begtrup, Richard Person, Maria Karayiorgou, Johannes L. Roos, Koen L.I. van Gassen, Marion Koopmans, Emilia K. Bijlsma, Gijs W.E. Santen, Daniela Q.C.M. Barge‐Schaapveld, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Seema R. Lalani, Haley Streff, William J. Craigen, Brett H. Graham, Annette P.M. van den Elzen, D.J. Kamphuis, Katrin Õunap, Karit Reinson, Sander Pajusalu, Monica H. Wojcik, Clara Viberti, Cornelia Di Gaetano, Enrico Bertini, Simona Petrucci, Alessandro De Luca, Rossella Rota, Elisabetta Ferretti, Giuseppe Matullo, Bruno Dallapiccola, Antonella Sgura, Magdalena Walkiewicz, R. Frank Kooy, Marco Tartaglia
出版 2019Artigo
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