Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Bernadette C Hanna"'
Autor:
Laura Yeates, Anand Pudipeddi, Alfred Hing, Adam Eslick, Richard G. Bennett, Timothy Campbell, Bernadette C. Hanna, Saurabh Kumar
Publikováno v:
Heart, Lung and Circulation. 30:310-317
Lamin A/C (LMNA) cardiomyopathy forms an important and increasingly recognised group within the broad spectrum of non-ischaemic cardiomyopathies. LMNA cardiomyopathy typically presents with atrioventricular block followed by recurrent ventricular arr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f7e3d7b8ef4edcfd605438cea0d8bbd
https://doi.org/10.1016/j.hlc.2020.08.024
https://doi.org/10.1016/j.hlc.2020.08.024
Autor:
Matthew S. Edwards, David S. Winlaw, Dimuthu Alankarage, Kavitha R Iyer, Bernadette C Hanna, Steven Monger, Gavin Chapman, Victoria C. O'Reilly, Justin O. Szot, Michelle Yam, Annabelle Enriquez, Julie L. M. Moreau, Ella M M A Martin, Sally L. Dunwoodie, Duncan B. Sparrow, Helen E. Ritchie, Joelene A Greasby, Eleni Giannoulatou, Hongjun Shi, Gillian M. Blue, Eddie I P, Stuart M. Grieve
Publikováno v:
Hum Mol Genet
Congenital heart disease (CHD) is the most common birth defect and brings with it significant mortality and morbidity. The application of exome and genome sequencing has greatly improved the rate of genetic diagnosis for CHD but the cause in the majo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f4aedb11c92ae713b9b813716d7b59
https://doi.org/10.1093/hmg/ddz270
https://doi.org/10.1093/hmg/ddz270
Autor:
Fiona Haslam McKenzie, Wouter Steyaert, Marije Koopmans, Banu Güzel Nur, Paul Coucke, Bert Callewaert, Siren Berland, Anita Rauch, Ilse Meerschaut, Florence Petit, Emma Wakeling, Edward Blair, Kathelijn Keymolen, Bernadette C. Hanna, Pascale Ribai, Shana De Coninck, Isabelle Migeotte, Frank Plasschaert, Vinod Varghese, Carina Wallgren-Pettersson, Andrew Green, Melissa Lees, Damien Lederer, Anne De Paepe, Angela Barnicoat, Irene Stolte-Dijkstra, Juliette Piard, Irene Valenzuela, Anna de Burca, Jeroen Breckpot, Franco Stanzial, Sally Ann Lynch, Iratxe Salcedo Pacheco, Ercan Mihci, Alison Male, Pradeep Vasudevan, Daniël De Wolf, Francesco Benedicenti, Cheryl Longman, Allan Bayat, Sixto García-Miñaur, Sofie Symoens, Anne Destree
Publikováno v:
Genetics in medicine
Genetics in Medicine, 22(1), 124-131. Nature Publishing Group
Genetics in Medicine, 22(1), 124-131. Nature Publishing Group
Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e41b20dc4ed1005a167b8080435cdbd
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/298538
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/298538
