المؤلفون: Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, James McNamara, Morgan almog, Vanessa Fear, Caroline Medi, Mohammad Al-Shinnag, Miriam Fine, Raymond Sy, Keri Finlay, Di Milnes, Dotti Tang, Denisse Garza, Michael Milward, Jessica Taylor, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Belinda Gray, Helen Mountain, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Miranda Vidgen, Georgie Hollingsworth, Chirag Patel, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Matthew Perry, Will Carr, Denise Howting, Andreas Pflaumer, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Mark Ryan, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Julia Dobbins, Julia Mansour, Isabella Sherburn, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Carla Smerdon, David Elliott, Janine Smith

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)

مصطلحات موضوعية: Australian Genomics, Cardiovascular genetic disorders, Genome sequencing, Specialized multidisciplinary care, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009889; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/c9654afa9dea4d2db6eb639d8979bf14

المؤلفون: Eric Haan, Sebastian Levesque, Thomas M. Polasek, Sepehr Shakib

المصدر: F1000Research, Vol 10 (2021)

مصطلحات موضوعية: phase 1, genetics, healthy volunteers, informed consent, pharmacogenetics, eng, Medicine, Science

وصف الملف: electronic resource

Relation: https://f1000research.com/articles/10-259/v1; https://doaj.org/toc/2046-1402

URL الوصول: https://doaj.org/article/dd26bed9e01247e9aa15ccf59f01778d

المؤلفون: Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J. Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk, Felicity Collins, Kristi Jones, Juliet Taylor, Ian Hayes, Elizabeth Thompson, Christopher Barnett, Eric Haan, Mary-Louise Freckmann, Anne Turner, Susan White, Ben Kamien, Alan Ma, Fiona Mackenzie, Gareth Baynam, Cathy Kiraly-Borri, Michael Field, Tracey Dudding-Byth, Elizabeth M. Algar

المصدر: Clinical Epigenetics, Vol 10, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: DNA methyltransferase 1, Beckwith-Wiedemann syndrome, One-carbon pathway, Methylation, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13148-018-0546-4; https://doaj.org/toc/1868-7075; https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/ec81829129324b9a8a4e10b98c5eb320

المؤلفون: Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn P. Burdon

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-6 (2017)

مصطلحات موضوعية: MAF, Congenital cataract, Pediatric cataract, Ion Ampliseq, Next generation sequencing, Syndromic cataract, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0414-7; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/737213cdaf4e448aacbcdef911e60689

المؤلفون: Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, Martin S Taylor, Hemant Bengani, David I Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey Thompson, Eric Haan, Jozef Gecz, David R Fitzpatrick, R Frank Kooy

المصدر: PLoS Genetics, Vol 10, Iss 4, p e1004242 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3998887?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/d3dcf43d51eb47b5b7cbeb70d07b6dc0

المؤلفون: Jordan R. Hansford, Manika Pal, Nicola Poplawski, Eric Haan, Bernadette Boog, Antonio Ferrante, Joie Davis, Julie E. Niemela, V. Koneti Rao, Ram Suppiah

المصدر: Haematologica, Vol 98, Iss 4 (2013)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/6638; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/7aae7ccfbe554631ba97efb487bab3d1

المؤلفون: Carol Dobson-Stone, Marianne Hallupp, Clement T Loy, Elizabeth M Thompson, Eric Haan, Carolyn M Sue, Peter K Panegyres, Cristina Razquin, Manuel Seijo-Martínez, Ramon Rene, Jordi Gascon, Jaume Campdelacreu, Birgit Schmoll, Alexander E Volk, William S Brooks, Peter R Schofield, Pau Pastor, John B J Kwok

المصدر: PLoS ONE, Vol 8, Iss 2, p e56899 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3577667?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/34d9fa3edd3248f2999405cb91c6ba3c

المؤلفون: Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N. Parikh, Gerard J. te Meerman, Belinda Gray, Ahmet Adiyaman, Richard D. Bagnall, Daniela Q.C.M. Barge-Schaapveld, Maarten P. van den Berg, Marianne Bootsma, Laurens P. Bosman, Gemma Correnti, Johan Duflou, Ruben N. Eppinga, Diane Fatkin, Michael Fietz, Eric Haan, Jan D.H. Jongbloed, Arnaud D. Hauer, Lien Lam, Freyja H.M. van Lint, Amrit Lota, Carlo Marcelis, Hugh J. McCarthy, Anneke M. van Mil, Rogier A. Oldenburg, Nicholas Pachter, R. Nils Planken, Chloe Reuter, Christopher Semsarian, Jasper J. van der Smagt, Tina Thompson, Jitendra Vohra, Paul G.A. Volders, Jaap I. van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S. Amin, Arthur A.M. Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A. Ashley, Matthew T. Wheeler, James S. Ware, J. Peter van Tintelen, Jodie Ingles

المساهمون: Cardiovascular Centre (CVC), Human Genetics, Graduate School, ACS - Heart failure & arrhythmias, AII - Cancer immunology, Amsterdam Reproduction & Development (AR&D), Radiology and Nuclear Medicine, ACS - Pulmonary hypertension & thrombosis, ACS - Atherosclerosis & ischemic syndromes, Cardiology, Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9), RS: Carim - H04 Arrhythmogenesis and cardiogenetics, Clinical Genetics

المصدر: Circulation. Genomic and Precision Medicine, 16, 1
Circulation: Genomic and Precision Medicine, 16(1):E003672. LIPPINCOTT WILLIAMS & WILKINS
Circulation. Genomic and precision medicine, 16(1). Lippincott Williams and Wilkins Ltd.
Circulation: Genomic and Precision Medicine, 16(1), 69-79. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and Precision Medicine, 16
Circulation: Genomic and Precision Medicine, 16(1). Lippincott Williams & Wilkins

مصطلحات موضوعية: cardiomyopathies, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], sudden cardiac, death, death, sudden cardiac, primary, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], General Medicine, desmoplakins, genetic testing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168e6f2d791aa1fd96556c202c710360

المؤلفون: Edgar T, Hoorntje, Charlotte, Burns, Luisa, Marsili, Ben, Corden, Victoria N, Parikh, Gerard J, Te Meerman, Belinda, Gray, Ahmet, Adiyaman, Richard D, Bagnall, Daniela Q C M, Barge-Schaapveld, Maarten P, van den Berg, Marianne, Bootsma, Laurens P, Bosman, Gemma, Correnti, Johan, Duflou, Ruben N, Eppinga, Diane, Fatkin, Michael, Fietz, Eric, Haan, Jan D H, Jongbloed, Arnaud D, Hauer, Lien, Lam, Freyja H M, van Lint, Amrit, Lota, Carlo, Marcelis, Hugh J, McCarthy, Anneke M, van Mil, Rogier A, Oldenburg, Nicholas, Pachter, R Nils, Planken, Chloe, Reuter, Christopher, Semsarian, Jasper J, van der Smagt, Tina, Thompson, Jitendra, Vohra, Paul G A, Volders, Jaap I, van Waning, Nicola, Whiffin, Arthur, van den Wijngaard, Ahmad S, Amin, Arthur A M, Wilde, Gijs, van Woerden, Laura, Yeates, Dominica, Zentner, Euan A, Ashley, Matthew T, Wheeler, James S, Ware, J Peter, van Tintelen, Jodie, Ingles

المصدر: Circulation. Genomic and precision medicine.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7142023d0a2271d92d9519c93025ddd3
https://pubmed.ncbi.nlm.nih.gov/36580316

المؤلفون: Ella Thomson, Minh Tran, Gorjana Robevska, Katie Ayers, Jocelyn van der Bergen, Prarthna Gopalakrishnan Bhaskaran, Eric Haan, Silvia Cereghini, Alla Vash-Margita, Miranda Margetts, Alison Hensley, Quan Nguyen, Andrew Sinclair, Peter Koopman, Emanuele Pelosi

المصدر: Human molecular genetics.

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27ea38e083f04c1e586802ba877de78d
https://pubmed.ncbi.nlm.nih.gov/36282544