Výsledky vyhledávání - Schepers, Dorien

iPSC-Cardiomyocyte Models of Brugada Syndrome—Achievements, Challenges and Future Perspectives Autor Nijak, Aleksandra, Saenen, Johan, Labro, Alain J., Schepers, Dorien, Loeys, Bart L., Alaerts, Maaike

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Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome Autor Meester, Josephina A. N., Verstraeten, Aline, Schepers, Dorien, Alaerts, Maaike, Van Laer, Lut, Loeys, Bart L.

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FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature Autor Cannaerts, Elyssa, Shukla, Anju, Hasanhodzic, Mensuda, Alaerts, Maaike, Schepers, Dorien, Van Laer, Lut, Girisha, Katta M., Hojsak, Iva, Loeys, Bart, Verstraeten, Aline

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Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2 Autor Letard, Pascaline, Schepers, Dorien, Albuisson, Juliette, Bruneval, Patrick, Spaggiari, Emmanuel, Van de Beek, Gerarda, Khung-Savatovsky, Suonavy, Belarbi, Nadia, Capri, Yline, Delezoide, Anne-Lise, Loeys, Bart, Guimiot, Fabien

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Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report Autor Nijak, Aleksandra, Labro, Alain J., De Wilde, Hans, Dewals, Wendy, Peigneur, Steve, Tytgat, Jan, Snyders, Dirk, Sieliwonczyk, Ewa, Simons, Eline, Van Craenenbroeck, Emeline, Schepers, Dorien, Van Laer, Lut, Saenen, Johan, Loeys, Bart, Alaerts, Maaike

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Morpho-functional comparison of differentiation protocols to create iPSC-derived cardiomyocytes Autor Nijak, Aleksandra, Simons, Eline, Vandendriessche, Bert, Van de Sande, Dieter, Fransen, Erik, Sieliwończyk, Ewa, Van Gucht, Ilse, Van Craenenbroeck, Emeline, Saenen, Johan, Heidbuchel, Hein, Ponsaerts, Peter, Labro, Alain J., Snyders, Dirk, De Vos, Winnok, Schepers, Dorien, Alaerts, Maaike, Loeys, Bart L.

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Cardiogeneticsbank@UZA: A Collection of DNA, Tissues, and Cell Lines as a Translational Tool Autor Alaerts, Maaike, van de Beek, Gerarda, Luyckx, Ilse, Meester, Josephina, Schepers, Dorien, Verstraeten, Aline, Saenen, Johan, Van Craenenbroeck, Emeline, Goovaerts, Inge, Rodrigus, Inez, Laga, Steven, Hendriks, Jeroen, Goethals, Sofie, De Wilde, Annemieke, Smits, Elke, Jorens, Philippe, Huizing, Manon, Van Laer, Lut, Loeys, Bart

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Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm Autor Doyle, Alexander J., Doyle, Jefferson J., Bessling, Seneca L., Maragh, Samantha, Lindsay, Mark E., Schepers, Dorien, Gillis, Elisabeth, Mortier, Geert, Homfray, Tessa, Sauls, Kimberly, Norris, Russell A., Huso, Nicholas D., Leahy, Dan, Mohr, David W., Caulfield, Mark J., Scott, Alan F., Destrée, Anne, Hennekam, Raoul C., Arn, Pamela H., Curry, Cynthia J., Van Laer, Lut, McCallion, Andrew S., Loeys, Bart L., Dietz, Harry C.

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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome Autor Schepers, Dorien, Doyle, Alexander J, Oswald, Gretchen, Sparks, Elizabeth, Myers, Loretha, Willems, Patrick J, Mansour, Sahar, Simpson, Michael A, Frysira, Helena, Maat-Kievit, Anneke, Van Minkelen, Rick, Hoogeboom, Jeanette M, Mortier, Geert R, Titheradge, Hannah, Brueton, Louise, Starr, Lois, Stark, Zornitza, Ockeloen, Charlotte, Lourenco, Charles Marques, Blair, Ed, Hobson, Emma, Hurst, Jane, Maystadt, Isabelle, Destrée, Anne, Girisha, Katta M, Miller, Michelle, Dietz, Harry C, Loeys, Bart, Van Laer, Lut

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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm Autor Lindsay, Mark E., Schepers, Dorien, Ajit Bolar, Nikhita, Doyle, Jefferson, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J.E., Fishman, Elliot K., Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdullah F., Levy, Howard P., Anderlid, Britt-Marie, Yang, Margaret H., Bongers, Ernie M.H.F., Timmermans, Janneke, Braverman, Alan C., Canham, Natalie, Mortier, Geert R., Brunner, Han G., Byers, Peter H., Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L.

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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia Autor Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.

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A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3 Autor Schepers, Dorien, Tortora, Giada, Morisaki, Hiroko, MacCarrick, Gretchen, Lindsay, Mark, Liang, David, Mehta, Sarju G., Hague, Jennifer, Verhagen, Judith, van de Laar, Ingrid, Wessels, Marja, Detisch, Yvonne, van Haelst, Mieke, Baas, Annette, Lichtenbelt, Klaske, Braun, Kees, van der Linde, Denise, Roos‐Hesselink, Jolien, McGillivray, George, Meester, Josephina, Maystadt, Isabelle, Coucke, Paul, El‐Khoury, Elie, Parkash, Sandhya, Diness, Birgitte, Risom, Lotte, Scurr, Ingrid, Hilhorst‐Hofstee, Yvonne, Morisaki, Takayuki, Richer, Julie, Désir, Julie, Kempers, Marlies, Rideout, Andrea L., Horne, Gabrielle, Bennett, Chris, Rahikkala, Elisa, Vandeweyer, Geert, Alaerts, Maaike, Verstraeten, Aline, Dietz, Hal, Van Laer, Lut, Loeys, Bart

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A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 Autor Van Gucht, Ilse, Meester, Josephina A.N., Bento, Jotte Rodrigues, Bastiaansen, Maaike, Bastianen, Jarl, Luyckx, Ilse, Van Den Heuvel, Lotte, Neutel, Cédric H.G., Guns, Pieter-Jan, Vermont, Mandy, Fransen, Erik, Perik, Melanie H.A.M., Velchev, Joe Davis, Alaerts, Maaike, Schepers, Dorien, Peeters, Silke, Pintelon, Isabel, Almesned, Abdulrahman, Ferla, Matteo P., Taylor, Jenny C., Dallosso, Anthony R., Williams, Maggie, Evans, Julie, Rosenfeld, Jill A., Sluysmans, Thierry, Rodrigues, Desiderio, Chikermane, Ashish, Bharmappanavara, Gangadhara, Vijayakumar, Kayal, Mottaghi Moghaddam Shahri, Hassan, Hashemi, Narges, Torbati, Paria Najarzadeh, Toosi, Mehran B., Al-Hassnan, Zuhair N., Vogt, Julie, Revencu, Nicole, Maystadt, Isabelle, Miller, Erin M., Weaver, K. Nicole, Begtrup, Amber, Houlden, Henry, Murphy, David, Maroofian, Reza, Pagnamenta, Alistair T., Van Laer, Lut, Loeys, Bart L., Verstraeten, Aline

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