Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Anna Majander"'
Autor:
Morag Tolvi, Lotta-Maria Oksanen, Lasse Lehtonen, Ahmed Geneid, Pia Männikkö, Hellevi Ruokonen, Anna Majander, Susan Arminen, Leena-Maija Aaltonen
Publikováno v:
BMC Health Services Research, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Background During the COVID-19 pandemic, health care had to find new ways to care for patients while reducing infection transmission. The role of telemedicine role has grown exponentially. Methods A questionnaire on experiences and satisfact
Externí odkaz:
https://doaj.org/article/88efacf9f83448108a5a886af4c96b77
Autor:
Anna Majander, Eeva‐Marja Sankila, Aura Falck, Laura Kristiina Vasara, Sanna Seitsonen, Maarit Kulmala, Anna‐Kaisa Haavisto, Kristiina Avela, Joni A. Turunen
Publikováno v:
Acta Ophthalmologica. 101:215-221
Purpose To report clinical features and potential disease markers of inherited retinal dystrophy (IRD) caused by the biallelic c.148delG variant in the tubby-like protein 1 (TULP1) gene. Methods A retrospective observational study of 16 IRD patients
Autor:
Maarit Kulmala, Anna Perregaard Munch Jørgensen, Kristina Anna Djupvik Aakvik, Laura Jussinniemi, Silje Dahl Benum, Sigrid Hegna Ingvaldsen, Dordi Austeng, Eero Kajantie, Kari Anne I. Evensen, Anna Majander, Tora Sund Morken
Publikováno v:
Acta Ophthalmologica.
Autor:
Perttu J. Liuska, Abdessallam Tadji, Pauliina Repo, Juho Hiltunen, Michael Backlund, Reetta‐Stiina Järvinen, Eeva Ojanen, Anna Majander, Tero T. Kivelä, Mika Harju, Joni A. Turunen
Publikováno v:
Acta Ophthalmologica.
Autor:
Julia Krootila, Maria Kaukonen, Eeva‐Marja Sankila, Maarjaliis Paavo, Sanna Seitsonen, Pauliina Repo, Michael P. Backlund, Anna Majander, Päivi Lindahl, Kristiina Vasara, Kristiina Avela, Eveliina Salminen, Robert E. MacLaren, Tero T. Kivelä, Joni A. Turunen
Publikováno v:
Acta Ophthalmologica. 100
Autor:
Annamari Immonen, Anna Majander, Sabita Kawan, Michael Backlund, Kristiina Vasara, Päivi Lindahl, Tero Kivelä, Joni Turunen
Publikováno v:
Acta Ophthalmologica. 100
Autor:
Anna Majander, Neringa Jurkute, Florence Burté, Kristian Brock, Catarina João, Houbin Huang, Magella M. Neveu, Choi Mun Chan, Holly J. Duncan, Simon Kelly, Emma Burkitt-Wright, Fadil Khoyratty, Yoon Tse Lai, Mala Subash, Patrick F. Chinnery, Maria Bitner-Glindzicz, Gavin Arno, Andrew R. Webster, Anthony T. Moore, Michel Michaelides, Andrew Stockman, Anthony G. Robson, Patrick Yu-Wai-Man
center dot OBJECTIVE: To evaluate the pattern of vision loss and genotype-phenotype correlations in WFS1-associated optic neuropathy (WON).center dot DESIGN: Multicenter cohort study. center dot METHODS: The study involved 37 patients with WON carryi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0bafcd7cbf02be7d371838645096e8
http://hdl.handle.net/10138/346328
http://hdl.handle.net/10138/346328
Autor:
Piero Barboni, Chiara La Morgia, Maria Lucia Cascavilla, Eun Hee Hong, Marco Battista, Anna Majander, Leonardo Caporali, Vincenzo Starace, Giulia Amore, Antonio Di Renzo, Michele Carbonelli, Paolo Nucci, Neringa Jurkute, Benson S. Chen, Roberta Panebianco, Anna Maria De Negri, Federico Sadun, Vincenzo Parisi, Francesco Bandello, Alfredo A. Sadun, Valerio Carelli, Patrick Yu-Wai-Man
Publikováno v:
American journal of ophthalmology.
To investigate the clinical and molecular genetic features of childhood-onset Leber hereditary optic neuropathy (LHON) to gain a better understanding of the factors influencing the visual outcome in this atypical form of the disease.Retrospective coh
Autor:
Dewi Astuti, Patrick Yu-Wai-Man, Nicola L. Beer, Timothy Barrett, John R. Ainsworth, Denise Williams, Benjamin Wright, Anna Majander, Malgorzata Zatyka, Archana Kulkarni, Kun Hu, Renuka P Dias
Publikováno v:
Journal of Medical Genetics
BackgroundWolfram syndrome (WFS) is a rare disorder characterised by childhood-onset diabetes mellitus and progressive optic atrophy. Most patients have variants in theWFS1gene. We undertook functional studies ofWFS1variants and correlated these with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1515e54612993f873a5503ce8c3c8445
http://hdl.handle.net/10138/338110
http://hdl.handle.net/10138/338110
Autor:
Annamari Immonen, Sabita Kawan, Minna Vesaluoma, Miikael Heiskanen, Claudia Taipale, Mira Koskinen, Anna Majander, Tero Kivelä, Joni Turunen
Publikováno v:
Acta Ophthalmologica. 100