检索结果 - Annette F. Baas
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Functional analysis of Peutz–Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity 由 Christelle Forcet, Sandrine Etienne‐Manneville, Hélène Gaude, Laurence Fournier, Sébastien Debilly, Marko Salmi, Annette F. Baas, Sylviane Olschwang, Hans Clevers, Marc Billaud
出版 2005Artigo -
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A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle‐specific genes 由 Magdaléna Harakaľová, Gijs J.M. Kummeling, Arjan Sammani, Marijke Linschoten, Annette F. Baas, Jasper van der Smagt, Pieter A. Doevendans, J. Peter van Tintelen, Dennis Dooijes, Michal Mokrý, Folkert W. Asselbergs
出版 2015Artigo -
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Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring 由 Mirjam S. de Pagter, Markus J. van Roosmalen, Annette F. Baas, Ivo Renkens, Karen Duran, Ellen van Binsbergen, Masoumeh Tavakoli‐Yaraki, Ron Hochstenbach, Lars T. van der Veken, Edwin Cuppen, Wigard P. Kloosterman
出版 2015Artigo -
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Evaluation of the cardiac amyloidosis clinical pathway implementation: a real-world experience 由 Maaike Brons, Steven A. Muller, Frans H. Rutten, Manon G. van der Meer, Alexander F. J. E. Vrancken, Monique C. Minnema, Annette F. Baas, Folkert W. Asselbergs, Marish I.F.J. Oerlemans
出版 2022Artigo -
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UNRAVEL: big data analytics research data platform to improve care of patients with cardiomyopathies using routine electronic health records and standardised biobanking 由 Arjan Sammani, M. Jansen, Marijke Linschoten, Ayoub Bagheri, Nicolaas de Jonge, Hans Kirkels, Linda W. van Laake, Aryan Vink, J. Peter van Tintelen, Dennis Dooijes, Anneline S.J.M. te Riele, Magdaléna Harakaľová, Annette F. Baas, Folkert W. Asselbergs
出版 2019Artigo -
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Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population 由 Mimount Bourfiss, Marion van Vugt, Abdulrahman Alasiri, Bram Ruijsink, Jessica van Setten, Amand F. Schmidt, Dennis Dooijes, Esther Puyol‐Antón, Birgitta K. Velthuis, J. Peter van Tintelen, Anneline S.J.M. te Riele, Annette F. Baas, Folkert W. Asselbergs
出版 2022Artigo -
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Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome 由 Annette F. Baas, Michael T. Gabbett, Milan Rimac, Minttu Kansikas, Martine Raphaël, Rutger A. J. Nievelstein, Wayne Nicholls, Johan Offerhaus, Daniëlle Bodmer, Annekatrin Wernstedt, Birgit Krabichler, Ulrich Strasser, Minna Nyström, Johannes Zschocke, Stephen P. Robertson, Mieke M. van Haelst, Katharina Wimmer
出版 2012Artigo -
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Yield of family screening for dilated cardiomyopathy: 10-year experience at a multidisciplinary cardiogenetic outpatient clinic 由 Isabelle Thierry, Steven A. Muller, Annette F. Baas, Dennis Dooijes, Rosa Laura E. van Loon, Angela E. Schoemaker, Pim van der Harst, Marish I.F.J. Oerlemans, Hubert F. Baars, Rutger J. Hassink, Folkert W. Asselbergs, J. Peter van Tintelen, Anneline S.J.M. te Riele
出版 2025Artigo -
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Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study 由 Lisa M. van den Bersselaar, Ingrid M.B.H. van de Laar, Marieke J.H. Baars, Annette F. Baas, Eelco Dulfer, Apollonia T. J. M. Helderman‐van den Enden, Yvonne Hilhorst‐Hofstee, Robert M. Kauling, Marlies Kempers, Martijn A. Oudijk, Alessandra Maugeri, Hennie T. Brüggenwirth, Arjan C. Houweling, Serwet Demirdas
出版 2025Artigo -
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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene 由 M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk, Lisenka E.L.M. Vissers, Annette F. Baas, Livia Kapusta, Johanna M. van Hagen, D Donnai, Thomy de Ravel, Joris A. Veltman, Ad Geurts van Kessel, Bert B.A. de Vries, Han G. Brunner, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij
出版 2005Artigo -
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Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy 由 Steven A. Muller, Alessio Gasperetti, Laurens P. Bosman, Amand F. Schmidt, Annette F. Baas, Ahmad S. Amin, Arjan C. Houweling, Arthur A.M. Wilde, Paolo Compagnucci, Mattia Targetti, Michela Casella, Leonardo Calò, Claudio Tondo, Pim van der Harst, Folkert W. Asselbergs, J. Peter van Tintelen, Marish I.F.J. Oerlemans, Anneline S.J.M. te Riele
出版 2023Artigo -
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Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant 由 Esmée van Drie, Jan D.H. Jongbloed, Edgar T. Hoorntje, Paul A. van der Zwaag, Moniek G.P.J. Cox, Ronald H. Lekanne Deprez, Arjan C. Houweling, Virginnio Proost, A. A. M. Wilde, Dennis Dooijes, Annette F. Baas, Anneline S.J.M. te Riele, Karin Y. van Spaendonck‐Zwarts, Elisabeth M. Lodder, J. Peter van Tintelen
出版 2025Artigo
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