Resultats de la cerca - Marc‐Phillip Hitz
- Mostrar 1 - 8 resultats de 8
-
1
-
2
Functional Zebrafish Studies Based on Human Genotyping Point to Netrin-1 as a Link Between Aberrant Cardiovascular Development and Thyroid Dysgenesis per Robert Opitz, Marc‐Phillip Hitz, Isabelle Vandernoot, Achim Trubiroha, Rasha Abu‐Khudir, Mark E. Samuels, Valérie Désilets, Sabine Costagliola, Grégor Andelfinger, Johnny Deladoëy
Publicat 2014Artigo -
3
Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease per Marc‐Phillip Hitz, Louis-Philippe Lemieux-Perreault, Christian R. Marshall, Yassamin Feroz-Zada, Robbie Davies, Shi Wei Yang, Anath C. Lionel, Guylaine D’Amours, Emmanuelle Lemyre, Rebecca Cullum, Jean‐Luc Bigras, Maryse Thibeault, Philippe Chétaille, Alexandre Montpetit, Paul Khairy, Bert Overduin, Sabine Klaassen, Pamela A. Hoodless, Philip Awadalla, Julie Hussin, Youssef Idaghdour, Mona Nemer, Alexandre F.R. Stewart, Cornelius F. Boerkoel, Stephen W. Scherer, Andréa Richter, Marie‐Pierre Dubé, Grégor Andelfinger
Publicat 2012Artigo -
4
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease per Florian Wünnemann, Asaf Ta‐Shma, Christoph Preuß, Séverine Leclerc, Patrick van Vliet, Andrea Oneglia, Maryse Thibeault, Emily Nordquist, Joy Lincoln, Franka Scharfenberg, Christoph Becker‐Pauly, P. Hofmann, Kirstin Hoff, Enrique Audain, Hans-Heiner Kramer, Wojciech Makałowski, Amiram Nir, Sebastian S. Gerety, Matthew E. Hurles, Johanna Comes, Anne Fournier, Hanna Osińska, Jeffrey Robins, Michel Pucéat, Harry C. Dietz, Andrew S. McCallion, Grégor Andelfinger, Bart Loeys, Lut Van Laer, Per Eriksson, Salah A. Mohamed, Luc Mertens, Anders Franco-Cereceda, Seema Mital, Orly Elpeleg, Marc‐Phillip Hitz, Grégor Andelfinger
Publicat 2019Artigo -
5
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans per Saeed Al Turki, Ashok Kumar Manickaraj, Catherine L. Mercer, Sebastian S. Gerety, Marc‐Phillip Hitz, Sarah Lindsay, Lisa C.A. D’Alessandro, G. Jawahar Swaminathan, Jamie Bentham, Anne-Karin Arndt, Jacoba Louw, Jeroen Breckpot, Marc Gewillig, Bernard Thienpont, Hashim Abdul‐Khaliq, Christine Harnack, Kirstin Hoff, Hans-Heiner Kramer, Stephan Schubert, Reiner Siebert, Okan Toka, Catherine Cosgrove, Hugh Watkins, Anneke Lucassen, Anne M. Kelly, Anthony P. Salmon, Frances Bu’Lock, Javier T Granados-Riveron, Kerry Setchfield, Chris Thornborough, J. David Brook, Barbara J.M. Mulder, Sabine Klaassen, Shoumo Bhattacharya, Koenraad Devriendt, David Fitzpatrick, David I. Wilson, Seema Mital, Matthew E. Hurles
Publicat 2014Artigo -
6
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases per Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhães, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, Alisa Maria Vittoria Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian Hon‐Yin Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc‐Phillip Hitz, Alexander Hoischen, Paul‐Martin Holterhus, Wiebke Hülsemann, Kimia Kahrizi, Vera M. Kalscheuer, Anita Sik Yau Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg Detlev Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia‐Cabau, René Buschow, Xavier Salvatella, Matthew L. Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Publicat 2023Artigo -
7
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing per Alejandro Sifrim, Marc‐Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H. Al Turki, Bernard Thienpont, Jeremy F. McRae, Tomas Fitzgerald, Tarjinder Singh, G. Jawahar Swaminathan, Elena Prigmore, Diana Rajan, Hashim Abdul‐Khaliq, Siddharth Banka, Ulrike Bauer, Jamie Bentham, Felix Berger, Shoumo Bhattacharya, Frances Bu’Lock, Natalie Canham, Irina-Gabriela Colgiu, Catherine Cosgrove, Helen Cox, Ingo Daehnert, Allan Daly, John Danesh, Alan Fryer, Marc Gewillig, Emma Hobson, Kirstin Hoff, Tessa Homfray, Anne-Karin Kahlert, Ami Ketley, Hans-Heiner Kramer, Katherine Lachlan, Anne Katrin Lampe, Jacoba Louw, Ashok Kumar Manickara, Dorin Manase, Karen McCarthy, Kay Metcalfe, Carmel Moore, Ruth Newbury‐Ecob, Seham Osman Babiker Omer, Willem H. Ouwehand, Soo‐Mi Park, Michael Parker, Thomas Pickardt, Martin Pollard, Leema Robert, David J. Roberts, Jennifer Sambrook, Kerry Setchfield, Brigitte Stiller, Chris Thornborough, Okan Toka, Hugh Watkins, Denise Williams, Michael Wright, Seema Mital, Piers E.F. Daubeney, Bernard Keavney, Judith Goodship, Riyadh Mahdi Abu-Sulaiman, Sabine Klaassen, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Koenraad Devriendt, David Fitzpatrick, J. David Brook, Matthew E. Hurles
Publicat 2016Artigo -
8
Efficacy and safety of oral semaglutide in patients with type 2 diabetes and moderate renal impairment (PIONEER 5): a placebo-controlled, randomised, phase 3a trial per Ofri Mosenzon, Thalia Marie Blicher, Signe Rosenlund, Jan W. Eriksson, Simon Heller, Ole Hels, Richard E. Pratley, Thozhukat Sathyapalan, Cyrus Desouza, R.N. Abramof, Diana N Alpenidze, S Aronoff, Kh.S. Astamirova Astamirova, B Barker, Gary Bedel, Lidia Belousova, Mark D. Benson, Isaac Beshay, William Biggs, Kenneth Blaze, Paweł Bogdański, Robert S. Busch, Sushela Chaidarun, Siddharthan Chandran, Alex R. Chang, S Chilka, Alan Cleland, Lisa Connery, George Mitchell Cornett, Bruno Delgado, Cyrus Desouza, Thomas Donner, Ken Eliasson, Jan W. Eriksson, Steven Folkerth, Kristy Forshaw, Hans Frandsen, Elena Frolova, Winston Gandy, G Gatipon, Albina Golovach, L Gonzalez-Orozco, Janusz Gumprecht, Élie Haddad, Troels Krarup Hansen, Thomas C. Hart, Syed Shahzad Hasan, Brent Hella, Simon Heller, Margareta Hellgren, Mark I. Hewitt, S Hietaniemi, Marc‐Phillip Hitz, P Houser, Raphael E. Huntley, R. A. JACKSON, Poul Erik Jakobsen, Anuj Pal Kapoor, Л. В. Каргина, Elena Kazakova, Khalid Khan, E. Klein, H Knoble, N Krasnopeeva, Andre Krzeminski, М. А. Куницына, J Lawhead, Klaus Levin, Philip Levin, Lorena Lewy-Alterbaum, Stina Lindmark, Robert S. Lindsay, Alain Luts, Tatyana Lysenko, Sten Madsbad, Tyler Maxwell, Caroline Mbogua, JA McKnight, Kaj Metsärinne, Т. А. Милованова, Emily Morawski, Ofri Mosenzon, Dan Nabriski, Hai Quy Tram Nguyen, Philip Nicol, S Nieminen, Anita Schwab Nikkola, Paul Norwood, Peter H. O’Donnell, A. Ola Odugbesan, Jeremy C. Parker, Y Pergaeva, А. Б. Песков, S. Plevin, Joe Pouzar, Richard E. Pratley, Josh Reed, Peter Rossing, Thozhukat Sathyapalan, M. Sergeeva-Kondrachenko
Publicat 2019Artigo
Eines de cerca:
Matèries relacionades
Biology
Gene
Genetics
Internal medicine
Medicine
Endocrinology
Exome
Exome sequencing
Heart disease
Missense mutation
Mutation
Alternative medicine
Aortic valve
Artificial intelligence
Bicuspid aortic valve
Big data
Biochemistry
Biogenesis
Bioinformatics
Cell biology
Cohort
Computer science
Congenital hypothyroidism
Copy-number variation
Cytoplasm
Data mining
Database
Developmental psychology
Diabetes mellitus
Disease