Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Claes Moller"'
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
Abstract Background Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal dis
Externí odkaz:
https://doaj.org/article/4ce51d37080146b1ae322711484c82fc
Autor:
Alessandro Castiglione, Claes Möller
Publikováno v:
Audiology Research, Vol 12, Iss 1, Pp 42-65 (2022)
Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Grae
Externí odkaz:
https://doaj.org/article/43517c6328ed43f88863cc42cee4031e
Publikováno v:
Frontiers in Psychology, Vol 11 (2020)
PurposeThe primary aim was to describe the similarities and differences among the general health, physical health, psychological health, social trust, and financial situations of people with Usher syndrome (USH) types 1, 2, and 3. A second aim was to
Externí odkaz:
https://doaj.org/article/0f6ddd09d38f4634b73678c4b8f6f86f
Publikováno v:
International Journal of Qualitative Studies on Health & Well-Being, Vol 15, Iss 1 (2020)
Purpose: This study aimed to explore lived experiences with working life from the perspective of people with deafblindness due to Usher syndrome type 2 (USH2). Background: A limited number of studies have explored working life of people with Usher sy
Externí odkaz:
https://doaj.org/article/160cc3b61cf8404c9e1378bc7e3a27c9
Autor:
Angèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, Guilaine Mathieu, Magali Bordier, Anja Knoll-Gellida, Pierre Rambeau, Isabelle Coupry, Michèle André, Eva Malm, Claes Möller, Sten Andreasson, Nanna D. Rendtorff, Lisbeth Tranebjærg, Michel Koenig, Didier Lacombe, Cyril Goizet, Patrick J. Babin
Publikováno v:
Neurobiology of Disease, Vol 98, Iss , Pp 36-51 (2017)
ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the
Externí odkaz:
https://doaj.org/article/758f697767cc456fb129803b2625c7b9
Publikováno v:
Noise and Health, Vol 19, Iss 88, Pp 125-132 (2017)
Introduction: The aim of this study was to investigate self-reported hearing and portable music listening habits, measured hearing function and music exposure levels in Swedish adolescents. The study was divided into two parts. Materials and Methods:
Externí odkaz:
https://doaj.org/article/9df7eb7f1e3640dc88ee4bb0a2a08034
Publikováno v:
International Journal of Qualitative Studies on Health & Well-Being, Vol 14, Iss 1 (2019)
Purpose: To explore life strategies in people with Usher syndrome type 2a. Background: There are no studies on life strategies in people with Usher syndrome. People with deafblindness are often described in terms of poor health and low quality of lif
Externí odkaz:
https://doaj.org/article/dccba75294f045dd8aced954e0aebed5
Publikováno v:
Noise and Health, Vol 16, Iss 69, Pp 79-88 (2014)
The aim of the following study was to examine the relationship between working memory capacity (WMC), executive functions (EFs) and perceived effort (PE) after completing a work-related task in quiet and in noise in employees with aided hearing impai
Externí odkaz:
https://doaj.org/article/96ca97b4647c4678b56e4769ec42aa8a