المؤلفون: Jordan, Elizabeth, Peterson, Laiken, Ai, Tomohiko, Asatryan, Babken, Bronicki, Lucas, Brown, Emily, Celeghin, Rudy, Edwards, Matthew, Fan, Judy, Ingles, Jodie, James, Cynthia A, Jarinova, Olga, Johnson, Renee, Judge, Daniel P, Lahrouchi, Najim, Deprez, Ronald H Lekanne, Lumbers, R Thomas, Mazzarotto, Francesco, Domingo, Argelia Medeiros, Miller, Rebecca L, Morales, Ana, Murray, Brittney, Peters, Stacey, Pilichou, Kalliopi, Protonotarios, Alexandros, Semsarian, Christopher, Shah, Palak, Syrris, Petros, Thaxton, Courtney, van Tintelen, J Peter, Walsh, Roddy, Wang, Jessica, Ware, James, Hershberger, Ray E

المصدر: Circulation. 144(1)

مصطلحات موضوعية: Cardiovascular, Genetics, Heart Disease, Rare Diseases, Biotechnology, Cardiomyopathy, Dilated, Evidence-Based Medicine, Expert Testimony, Genetic Predisposition to Disease, Genetic Testing, Humans, cardiomyopathy, genetics, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4dj848ntTest

المؤلفون: Josephs, Katherine S, Roberts, Angharad M, Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J, Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D, Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C, Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E, Chahal, C Anwar A, Landstrom, Andrew P, James, Cynthia, McNally, Elizabeth M, Judge, Daniel P, van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, Ware, James S

المساهمون: UMC Utrecht, Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health

مصطلحات موضوعية: Databases, Genetic, Genetic Testing, Genetic Variation, Genomics, Humans, Inheritance Patterns, Inherited cardiac conditions, Inheritance, Variant classification, Allelic requirement, Disease mechanism, Genomic variant filtering, Gene curation, Variant interpretation, Genetics(clinical), Genetics, Molecular Medicine, Molecular Biology, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/450344Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/450344Test

المؤلفون: Allouba, Mona, Walsh, Roddy, Afify, Alaa, Hosny, Mohammed, Halawa, Sarah, Galal, Aya, Fathy, Mariam, Theotokis, Pantazis I, Boraey, Ahmed, Ellithy, Amany, Buchan, Rachel, Govind, Risha, Whiffin, Nicola, Anwer, Shehab, ElGuindy, Ahmed, Ware, James S, Barton, Paul J R, Yacoub, Magdi, Aguib, Yasmine

المصدر: European Heart Journal; 12/21/2023, Vol. 44 Issue 48, p5146-5158, 13p

مصطلحات موضوعية: HYPERTROPHIC cardiomyopathy, GENETIC testing, GENETIC variation, CONSANGUINITY, EGYPTIANS, RECESSIVE genes

المؤلفون: Walsh, Roddy, Adler, Arnon, Amin, Ahmad S, Abiusi, Emanuela, Care, Melanie, Bikker, Hennie, Amenta, Simona, Feilotter, Harriet, Nannenberg, Eline A, Mazzarotto, Francesco, Trevisan, Valentina, Garcia, John, Hershberger, Ray E, Perez, Marco V, Sturm, Amy C, Ware, James S, Zareba, Wojciech, Novelli, Valeria, Wilde, Arthur A M, Gollob, Michael H

المساهمون: Walsh, Roddy, Adler, Arnon, Amin, Ahmad S, Abiusi, Emanuela, Care, Melanie, Bikker, Hennie, Amenta, Simona, Feilotter, Harriet, Nannenberg, Eline A, Mazzarotto, Francesco, Trevisan, Valentina, Garcia, John, Hershberger, Ray E, Perez, Marco V, Sturm, Amy C, Ware, James S, Zareba, Wojciech, Novelli, Valeria, Wilde, Arthur A M, Gollob, Michael H

مصطلحات موضوعية: Catecholaminergic polymorphic ventricular tachycardia, Genetic testing, Mendelian genetic, Short QT syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34557911; info:eu-repo/semantics/altIdentifier/wos/WOS:000756545400001; journal:EUROPEAN HEART JOURNAL; http://hdl.handle.net/11379/551661Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128489200

الإتاحة: https://doi.org/10.1093/eurheartj/ehab687Test
http://hdl.handle.net/11379/551661Test

المؤلفون: Walsh, Roddy, Adler, Arnon, Amin, Ahmad S, Abiusi, Emanuela, Care, Melanie, Bikker, Hennie, Amenta, Simona, Feilotter, Harriet, Nannenberg, Eline A, Mazzarotto, Francesco, Trevisan, Valentina, Garcia, John, Hershberger, Ray E, Perez, Marco V, Sturm, Amy C, Ware, James S, Zareba, Wojciech, Novelli, Valeria, Wilde, Arthur A M, Gollob, Michael H

المصدر: European Heart Journal; 4/14/2022, Vol. 43 Issue 15, p1500-1510, 11p

مصطلحات موضوعية: RECESSIVE genes, SUDDEN death, VENTRICULAR tachycardia, ARRHYTHMIA, BRUGADA syndrome, GENETIC testing, GENES, MENDEL'S law

المؤلفون: Bezzina, Connie R.¹ (AUTHOR) c.r.bezzina@amsterdamumc.nl, Walsh, Roddy¹ (AUTHOR), Lahrouchi, Najim¹ (AUTHOR)

المصدر: Journal of the American College of Cardiology (JACC). Nov2019, Vol. 74 Issue 21, p2635-2637. 3p.

مصطلحات موضوعية: *CARDIAC arrest, *BRUGADA syndrome, *FAMILIAL hypercholesterolemia, *POPULATION, *GENETIC testing, *CORONARY disease, *COMPARATIVE studies, *RESEARCH methodology, *MEDICAL cooperation, *RESEARCH, *EVALUATION research, *SEQUENCE analysis

المؤلفون: Kassem, Heba Sh.^1,2, Walsh, Roddy³, Barton, Paul J.^3,4, Abdelghany, Besra S.¹, Azer, Remon S.¹, Buchan, Rachel^3,4, John, Shibu^3,4, Elguindy, Ahmed¹, Moharem-ElGamal, Sarah^1,5, Badran, Hala M.^1,6, Shehata, Hoda^1,2, Cook, Stuart A.^3,7,8,9, Yacoub, Magdi H.^1,3 m.yacoub@imperial.ac.uk

المصدر: Egyptian Journal of Medical Human Genetics. 2017, Vol. 18 Issue 4, p381-387. 7p.

مصطلحات موضوعية: *HEART diseases, *GENETIC disorders, *GENETIC testing, *HYPERTROPHIC cardiomyopathy, *GENETIC mutation

المؤلفون: Walsh, Roddy^1,2,3 r.t.walsh@amc.uva.nl, Mazzarotto, Francesco^1,4,5, Whiffin, Nicola^1,2,6, Buchan, Rachel^1,2, Midwinter, William^1,2, Wilk, Alicja^1,2, Li, Nicholas^1,6, Felkin, Leanne^1,2, Ingold, Nathan¹, Govind, Risha^1,2, Ahmad, Mian^1,2, Mazaika, Erica^1,2, Allouba, Mona^2,7, Zhang, Xiaolei^1,2, de Marvao, Antonio⁶, Day, Sharlene M.⁸, Ashley, Euan⁹, Colan, Steven D.¹⁰, Michels, Michelle¹¹, Pereira, Alexandre C.¹²

المصدر: Genome Medicine. 1/29/2019, Vol. 11 Issue 1, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *GENETIC testing, *MENDEL'S law, *HYPERTROPHIC cardiomyopathy, *HUMAN genetic variation, *MICROBIAL virulence

المؤلفون: Walsh, Roddy, Thomson, Kate L., Ware, James S., Funke, Birgit H., Woodley, Jessica, McGuire, Karen J., Mazzarotto, Francesco, Blair, Edward, Seller, Anneke, Taylor, Jenny C., Minikel, Eric V., Exome Aggregation Consortium, MacArthur, Daniel G., Farrall, Martin, Cook, Stuart A., Watkins, Hugh

المساهمون: Wellcome Trust, Department of Health

المصدر: BASE-Bielefeld Academic Search Engine
Genetics in Medicine

مصطلحات موضوعية: VARIANTS, DIAGNOSIS, DISEASE, MECHANISMS, MYBPC3, variation interpretation, Exome Aggregation Consortium, Databases, Genetic, Exome Sequencing, Humans, Exome, Original Research Article, Genetic Testing, Genetics & Heredity, 0604 Genetics, Science & Technology, MUTATIONS, Genome, Human, CAUSE HYPERTROPHIC CARDIOMYOPATHY, Genetic Diseases, Inborn, Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, 1103 Clinical Sciences, inherited cardiomyopathy, IDIOPATHIC DILATED CARDIOMYOPATHY, Mendelian genetics, Mutation, Cardiomyopathies, Life Sciences & Biomedicine, FRACTIONS, clinical genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::dc98e34f6a3b1532a45e8ac39f598c63Test
http://nrs.harvard.edu/urn-3:HUL.InstRepos:31731824Test

المؤلفون: Abiusi, Emanuela, Amenta, Simona, Trevisan, Valentina, Novelli, Valeria

المساهمون: Walsh, Roddy, Adler, Arnon, Amin, Ahmad S, Abiusi, Emanuela, Care, Melanie, Bikker, Hennie, Amenta, Simona, Feilotter, Harriet, Nannenberg, Eline A, Mazzarotto, Francesco, Trevisan, Valentina, Garcia, John, Hershberger, Ray E, Perez, Marco V, Sturm, Amy C, Ware, James S, Zareba, Wojciech, Novelli, Valeria, Wilde, Arthur A M, Gollob, Michael H

مصطلحات موضوعية: Catecholaminergic polymorphic ventricular tachycardia, Genetic testing, Mendelian genetics, Short QT syndrome, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34557911; info:eu-repo/semantics/altIdentifier/wos/WOS:000756545400001; volume:43; issue:15; firstpage:1500; lastpage:1510; numberofpages:11; issueyear:2022; journal:EUROPEAN HEART JOURNAL; https://hdl.handle.net/10807/238874Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128489200; https://academic.oup.com/eurheartj/article/43/15/1500/6374783?login=trueTest

الإتاحة: https://doi.org/10.1093/eurheartj/ehab687Test
https://hdl.handle.net/10807/238874Test
https://academic.oup.com/eurheartj/article/43/15/1500/6374783?login=trueTest