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Displaying 5 results.
    • Journal article
    Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
    Koehler, Katrin Malik, Meera Mahmood, Saqib Gießelmann, Sebastian Beetz, Christian Hennings, J Christopher Huebner, Antje K Grahn, Ammi[UCL] Reunert, Janine Nürnberg, Gudrun Thiele, Holger Altmüller, Janine Nürnberg, Peter Mumtaz, Rizwan Babovic-Vuksanovic, Dusica Basel-Vanagaite, Lina Borck, Guntram Brämswig, Jürgen Mühlenberg, Reinhard Sarda, Pierre Sikiric, Alma Anyane-Yeboa, Kwame Zeharia, Avraham Ahmad, Arsalan Coubes, Christine Wada, Yoshinao Marquardt, Thorsten Vanderschaeghe, Dieter Van Schaftingen, Emile[UCL] Kurth, Ingo Huebner, Angela Hübner, Christian A (2013) American Journal of Human Genetics — Vol. 93, no.4, p. 727-734 (2013)
    • Journal article
    mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy
    Schlingmann, Karl P. Jouret, François Shen, Kuang Nigam, Anukrati Arjona, Francisco J. Dafinger, Claudia Houillier, Pascal Jones, Deborah P. Kleinerüschkamp, Felix Oh, Jun Godefroid, Nathalie[UCL] Eltan, Mehmet Güran, Tülay Burtey, Stéphane Parotte, Marie-Christine König, Jens Braun, Alina Bos, Caro Ibars Serra, Maria Rehmann, Holger Zwartkruis, Fried J.T. Renkema, Kirsten Y. Klingel, Karin Schulze-Bahr, Eric Schermer, Bernhard Bergmann, Carsten Altmüller, Janine Thiele, Holger Beck, Bodo B. Dahan, Karin[UCL] Sabatini, David Liebau, Max C. Vargas-Poussou, Rosa Knoers, Nine V.A.M. Konrad, Martin de Baaij, Jeroen H.F. (2021) Journal of the American Society of Nephrology — Vol. 32, no. 11, p. 2885-2899 (2021)
    • Journal article
    Antithrombotic Therapy after Acute Coronary Syndrome or PCI in Atrial Fibrillation.
    Lopes, Renato D Heizer, Gretchen Aronson, Ronald Vora, Amit N Massaro, Tyler Mehran, Roxana Goodman, Shaun G Windecker, Stephan Darius, Harald Li, Jia Averkov, Oleg Bahit, M Cecilia Berwanger, Otavio Budaj, Andrzej Hijazi, Ziad Parkhomenko, Alexander Sinnaeve, Peter Storey, Robert F Thiele, Holger Vinereanu, Dragos Granger, Christopher B Alexander, John H AUGUSTUS Investigators Guedes, Antoine[UCL] (2019) The New England journal of medicine — Vol. 380, no. 16, p. 1509-1524 (2019)
    • Journal article
    Fibrinolysis for patients with intermediate-risk pulmonary embolism
    Meyer, Guy Vicaut, Eric Danays, Thierry Agnelli, Giancarlo Becattini, Cecilia Beyer-Westendorf, Jan Bluhmki, Erich Bouvaist, Helene Brenner, Benjamin Couturaud, Francis Dellas, Claudia Empen, Klaus Franca, Ana Galiè, Nazzareno Geibel, Annette Goldhaber, Samuel Z Jimenez, David Kozak, Matija Kupatt, Christian Kucher, Nils Lang, Irene M Lankeit, Mareike Meneveau, Nicolas Pacouret, Gerard Palazzini, Massimiliano Petris, Antoniu Pruszczyk, Piotr Rugolotto, Matteo Salvi, Aldo Schellong, Sebastian Sebbane, Mustapha Sobkowicz, Bozena Stefanovic, Branislav S Thiele, Holger Torbicki, Adam Verschuren, Franck[UCL] Konstantinides, Stavros V PEITHO Investigators (2014) New England Journal of Medicine — Vol. 370, no. 15, p. 1402-1411 (2014)
    • Journal article
    EAPCI Core Curriculum for Percutaneous Cardiovascular Interventions (2020): Committee for Education and Training European Association of Percutaneous Cardiovascular Interventions (EAPCI). A branch of the European Society of Cardiology.
    Van Belle, Eric Teles, Rui C Pyxaras, Stylianos A Kalpak, Oliver Johnson, Thomas William Barbash, Israel Moshe De Luca, Giuseppe Kostov, Jorgo Parma, Radoslaw Vincent, Flavien Brugaletta, Salvatore Debry, Nicolas Toth, Gabor G Ghazzal, Ziyad Deharo, Pierre Milasinovic, Dejan Kaspar, Klaus Saia, Francesco Mauri Ferre, Josepa Kammler, Jürgen Muir, Douglas F O'Connor, Stephen Mehilli, Julinda Thiele, Holger Weilenmann, Daniel Witt, Nils Joshi, Francis Kharbanda, Rajesh K Piroth, Zsolt Wojakowski, Wojciech Geppert, Alexander Di Gioia, Giuseppe Pires-Morais, Gustavo Petronio, Anna Sonia Estevez-Loureiro, Rodrigo Ruzsa, Zoltán Kefer, Joëlle[UCL] Kunadian, Vijay Van Mieghem, Nicolas Windecker, Stephan Baumbach, Andreas Haude, Michael Dudek, Dariusz (2021) EuroIntervention — Vol. 17, no.1, p. 23-31 (2021)