Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Cecilia Gunnarsson"'
Autor:
Anna Wålinder Österberg, Ingegerd Östman-Smith, Henrik Green, Cecilia Gunnarsson, Mats Fredrikson, Petru Liuba, Eva Fernlund
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 11, Iss 4, p 105 (2024)
Background: Any difference in biomarkers between genotype-positive individuals with overt hypertrophic cardiomyopathy (HCM), and genotype-positive but phenotype-negative individuals (G+P-) in HCM-associated pathways might shed light on pathophysiolog
Externí odkaz:
https://doaj.org/article/929412b96f7b42c49081ef5a7bfee495
Autor:
Cyrille Granget, Cecilia Gunnarsson, Inès Saddour, Clara Solier, Vera Serrau, Charlotte Alazard
Publikováno v:
Education Sciences, Vol 14, Iss 3, p 234 (2024)
In recent decades, a vast literature has documented crosslinguistic influences on the acquisition of L2 phonology and in particular the effects of spelling on pronunciation. However, articulating these research findings in terms of taking into accoun
Externí odkaz:
https://doaj.org/article/251e0617a9b249cd897ba9328e7de3fb
Autor:
Svea Horn, Magdalena Danyel, Nina Erdmann, Felix Boschann, Cecilia Gunnarsson, Saskia Biskup, Jerome Juengling, Cornelia Potratz, Christine Prager, Angela M. Kaindl
Publikováno v:
Frontiers in Neurology, Vol 13 (2023)
Biallelic variants in the kaptin gene KPTN were identified recently in individuals with a novel syndrome referred to as autosomal recessive intellectual developmental disorder 41 (MRT41). MRT41 is characterized by developmental delay, predominantly i
Externí odkaz:
https://doaj.org/article/a99bee8f55f24995aa90dec2bd17a2b6
Autor:
Maude Johansson, David Marcusson-Clavertz, Cecilia Gunnarsson, Ida Olsson, Viktor Kaldo, Anna Bratt
Publikováno v:
Internet Interventions, Vol 30, Iss , Pp 100574- (2022)
Health care professionals (HCPs) are exposed to excessive demands in their work environment. In Sweden, work-related stress is one of the most common reasons for sick leaves. Finding cost-effective and easily accessible interventions for HCPs is cruc
Externí odkaz:
https://doaj.org/article/d96b9c17e064430684232e6a2431b193
Autor:
Antheia Kissopoulou, Eva Fernlund, Christina Holmgren, Eira Isaksson, Jan‐Erik Karlsson, Henrik Green, Jon Jonasson, Rada Ellegård, Hanna Klang Årstrand, Anneli Svensson, Cecilia Gunnarsson
Publikováno v:
ESC Heart Failure, Vol 7, Iss 3, Pp 1210-1216 (2020)
Abstract Myocarditis most often affects otherwise healthy athletes and is one of the leading causes of sudden death in children and young adults. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder
Externí odkaz:
https://doaj.org/article/92cfb6bf59f7473f9328079f3ea55a89
Autor:
Karolina Engström, Farkas Vánky, Malin Rehnberg, Cecilia Trinks, Jon Jonasson, Anna Green, Cecilia Gunnarsson
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Pathogenic variants in the SMAD3 gene affecting the TGF‐β/SMAD3 signaling pathway with aortic vessel involvement cause Loeys‐Dietz syndrome 3, also known as aneurysms–osteoarthritis syndrome. Methods Description of clinical
Externí odkaz:
https://doaj.org/article/c1d3e3af07a44958ab05b8eaf7f1c46c
Autor:
Eva Fernlund, Antheia Kissopoulou, Henrik Green, Jan-Erik Karlsson, Rada Ellegård, Hanna Klang Årstrand, Jon Jonasson, Cecilia Gunnarsson
Publikováno v:
Genes, Vol 11, Iss 12, p 1472 (2020)
Introduction: Sudden cardiac death (SCD) and early onset cardiomyopathy (CM) in the young will always lead to suspicion of an underlying genetic disorder. Incited by the rapid advances in genetic testing for disease we have revisited families, which
Externí odkaz:
https://doaj.org/article/fdd783dfa767473288ad81dd59857dbd
Autor:
Tove Sivik, Cecilia Gunnarsson, Tommy Fornander, Bo Nordenskjöld, Lambert Skoog, Olle Stål, Agneta Jansson
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e40568 (2012)
INTRODUCTION: 17β-Hydroxysteroid dehydrogenases (17βHSDs) are important enzymes regulating the pool of bioactive steroids in the breast. The current study was undertaken in order to evaluate implications of 17βHSD14 in breast cancer, measuring 17
Externí odkaz:
https://doaj.org/article/a0a13b67e2044dd9b23c720ee7600f66
Autor:
Michael Schön, Pablo Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij-Arts, Raoul C. Hennekam
Publikováno v:
European journal of medical genetics, 66(7):104754. Elsevier Masson SAS
European Journal of Medical Genetics
European Journal of Medical Genetics, 2023, 66 (7), pp.104754. ⟨10.1016/j.ejmg.2023.104754⟩
European Journal of Medical Genetics
European Journal of Medical Genetics, 2023, 66 (7), pp.104754. ⟨10.1016/j.ejmg.2023.104754⟩
International audience; Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities. As part of the development of Eu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80f86e321faa2747a743e5105b4d414b
https://pure.amc.nl/en/publications/definition-and-clinical-variability-of-shank3related-phelanmcdermid-syndrome(b728fe2b-83e2-49d7-b696-846b60d89de8).html
https://pure.amc.nl/en/publications/definition-and-clinical-variability-of-shank3related-phelanmcdermid-syndrome(b728fe2b-83e2-49d7-b696-846b60d89de8).html
Forensic molecular autopsies have emerged as a tool for medical examiners to establish the cause of death. It is particularly useful in sudden unexplained deaths where the cause of death cannot be determined with a regular medical autopsy. We provide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9d3108dbffd2c8bdbf5bb099122973
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-190210
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-190210