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1دورية أكاديمية
المؤلفون: Angelika Weis, Svenja Krueck, Gregor Dombrowsky, Anne Schänzer, Christian Jux, Anselm Uebing, Inga Voges, Marc-Phillip Hitz, Stefan Rupp
المصدر: Journal of Personalized Medicine, Vol 13, Iss 4, p 611 (2023)
مصطلحات موضوعية: troponin T2, TNNT2, cardiomyopathy, dilated cardiomyopathy, genetic screening, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Jose M. G. Izarzugaza, Sabrina G. Ellesøe, Canan Doganli, Natasja Spring Ehlers, Marlene D. Dalgaard, Enrique Audain, Gregor Dombrowsky, Karina Banasik, Alejandro Sifrim, Anna Wilsdon, Bernard Thienpont, Jeroen Breckpot, Marc Gewillig, Competence Network for Congenital Heart Defects, Germany, J. David Brook, Marc-Phillip Hitz, Lars A. Larsen, Søren Brunak
المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-13 (2020)
مصطلحات موضوعية: Congenital heart disease, Genetics, Whole exome sequencing, Developmental biology, Systems biology, Calcium signaling, Medicine, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
المصدر: PLoS Genetics, Vol 17, Iss 9, p e1009809 (2021)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
المصدر: PLoS Genetics, Vol 17, Iss 7, p e1009679 (2021)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium
المصدر: Frontiers in Genetics, Vol 10 (2019)
مصطلحات موضوعية: data sharing, phenotyping, patient information, data protection, rare disease, Faces, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المصدر: F1000Research, Vol 6 (2017)
مصطلحات موضوعية: Cardiovascular Physiology/Circulation, Congenital Heart Disease, Medical Genetics, Medicine, Science
وصف الملف: electronic resource
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7دورية أكاديمية
المصدر: PLoS ONE, Vol 12, Iss 12, p e0189875 (2017)
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Marc-Phillip Hitz, Louis-Philippe Lemieux-Perreault, Christian Marshall, Yassamin Feroz-Zada, Robbie Davies, Shi Wei Yang, Anath Christopher Lionel, Guylaine D'Amours, Emmanuelle Lemyre, Rebecca Cullum, Jean-Luc Bigras, Maryse Thibeault, Philippe Chetaille, Alexandre Montpetit, Paul Khairy, Bert Overduin, Sabine Klaassen, Pamela Hoodless, Philip Awadalla, Julie Hussin, Youssef Idaghdour, Mona Nemer, Alexandre F. R. Stewart, Cornelius Boerkoel, Stephen W. Scherer, Andrea Richter, Marie-Pierre Dubé, Gregor Andelfinger
المصدر: PLoS Genetics, Vol 9, Iss 3 (2013)
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Marc-Phillip Hitz, Louis-Philippe Lemieux-Perreault, Christian Marshall, Yassamin Feroz-Zada, Robbie Davies, Shi Wei Yang, Anath Christopher Lionel, Guylaine D'Amours, Emmanuelle Lemyre, Rebecca Cullum, Jean-Luc Bigras, Maryse Thibeault, Philippe Chetaille, Alexandre Montpetit, Paul Khairy, Bert Overduin, Sabine Klaassen, Pamela Hoodless, Philip Awadalla, Julie Hussin, Youssef Idaghdour, Mona Nemer, Alexandre F R Stewart, Cornelius Boerkoel, Stephen W Scherer, Andrea Richter, Marie-Pierre Dubé, Gregor Andelfinger
المصدر: PLoS Genetics, Vol 8, Iss 9, p e1002903 (2012)
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Marc-Phillip Hitz, Thomas Brand, Gregor Andelfinger
المصدر: Global Cardiology Science & Practice, Vol 2011, Iss 1 (2011)
مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2305-7823