Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Susanne Roos"'
Publikováno v:
BMC Geriatrics, Vol 24, Iss 1, Pp 1-10 (2024)
Abstract Background Research indicates that it is the quality of the closest relationships in the mixture of social relations that matters most for older adults. For older foreign-born, especially those who migrate late in life, the family is often t
Externí odkaz:
https://doaj.org/article/75200443d7a24afa94fcbf2374b919e1
Background Research indicates that it is the quality of the closest relationships in the mixture of social relations that matters most for older adults. For older foreign-born, especially those who migrate late in life, the family is often the only s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac953dc12b1f9078894f7229255220f6
https://doi.org/10.21203/rs.3.rs-2601944/v1
https://doi.org/10.21203/rs.3.rs-2601944/v1
Publikováno v:
Nordic Journal of Nursing Research. 41:77-83
Multimorbidity tends to increase with age. Providing care that is individualized and that focuses on the whole person rather than on separate health issues is a challenge for healthcare, due to a lack of coordination and information exchange. In the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc5f1c28be8b4198b0b74840c9dad8da
https://doi.org/10.1177/2057158520987048
https://doi.org/10.1177/2057158520987048
Autor:
Suzanne E. de Bruijn, Daan M. Panneman, Nicole Weisschuh, Elizabeth L. Cadena, Erica G. M. Boonen, Lara K. Holtes, Galuh D. N. Astuti, Frans P. M. Cremers, Nico Leijsten, Jordi Corominas, Christian Gilissen, Anna Skowronska, Jessica Woodley, Andrew D. Beggs, Vasileios Toulis, Di Chen, Michael E. Cheetham, Alison J. Hardcastle, Terri L. McLaren, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, John N. de Roach, Isabella R. Urwin, Lori S. Sullivan, Susanne Roosing
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionAutosomal dominant retinitis pigmentosa type 17 (adRP, type RP17) is caused by complex structural variants (SVs) affecting a locus on chromosome 17 (chr17q22). The SVs disrupt the 3D regulatory landscape by altering the topologically asso
Externí odkaz:
https://doaj.org/article/4befa15848f34806ac97263fee8b70c9
Publikováno v:
Gastroenterology Nursing. 42:496-503
Studies show that people with celiac disease have reduced well-being and have persistent symptoms, mainly related to the gastrointestinal tract. The aim of this study was to analyze how persons in a celiac disease member association report their symp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35edc369b01f74b3db8ff1eca1b8e75d
https://doi.org/10.1097/sga.0000000000000377
https://doi.org/10.1097/sga.0000000000000377
Autor:
Tabea V. Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey, Suzanne E. de Bruijn, Erica Boonen, Tomasz Z. Tomkiewicz, Michael Kwint, Jolein Gloerich, Hans J. C. T. Wessels, Emma Delanote, Elfride De Baere, Filip van Nieuwerburgh, Sarah De Keulenaer, Barbara Ferrari, Stefano Ferrari, Frauke Coppieters, Frans P. M. Cremers, Erwin van Wyk, Susanne Roosing, Erik de Vrieze, Peter A. C. ‘t Hoen
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The human neural retina is a complex tissue with abundant alternative splicing and more than 10% of genetic variants linked to inherited retinal diseases (IRDs) alter splicing. Traditional short-read RNA-sequencing methods have been used for understa
Externí odkaz:
https://doaj.org/article/597f13c9088a47f6afda9d373f062809
Autor:
Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100314- (2024)
Summary: Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The genetic diagnostic rate for IRDs is around 60%, mainly thanks to the r
Externí odkaz:
https://doaj.org/article/e17626b213a24c63b6a4df65247a5db9
Aims and objectives To investigate patients' experiences of being involved in their care in the emergency department (ED). Background Previous research shows that when patients experience involvement during care visits, this increased their trust in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e14f8b4a3c5790c910ae5863c1dcf5
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-174922
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-174922
Autor:
Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P. M. Cremers, Susanne Roosing, Tamar Ben-Yosef
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 3, Pp 2566-2575 (2024)
Bardet–Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disab
Externí odkaz:
https://doaj.org/article/957bdc72c35d4714ac632f1170ffbc9d
Autor:
Laura Whelan, Adrian Dockery, Kirk A. J. Stephenson, Julia Zhu, Ella Kopčić, Iris J. M. Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J. O’ Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P. M. Cremers, David J. Keegan, Paul F. Kenna, G. Jane Farrar
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
Abstract Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4
Externí odkaz:
https://doaj.org/article/c46ab88922e84dc084946bcf34d83944