Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Lise B. Hoxmark"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Persons with rare disorders may experience poorer health services due to limited knowledge about rare disorders among health professionals. Knowledge about how persons with rare disorders perceive health services can help inform s
Externí odkaz:
https://doaj.org/article/1e969d0501834746acbc5a3862533b4a
Publikováno v:
Journal of Intellectual Disabilities
The experience of having a rare disorder was summarised in a large study as ‘falling outside the vast field of knowledge of the professionals’. Parents (31 mothers and 17 fathers) of 32 persons with Smith–Magenis syndrome (SMS) participated in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b880f6e0b3d778684e3d11280559fe
https://doi.org/10.1177/1744629519847375
https://doi.org/10.1177/1744629519847375
Publikováno v:
European Journal of Medical Genetics. 60:610-617
The present study aimed to increase the knowledge about Wolf–Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f377c0806ba6db514ab93201100228
https://doi.org/10.1016/j.ejmg.2017.08.013
https://doi.org/10.1016/j.ejmg.2017.08.013
Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee54f40db0dbfabe61e6d263ad233bd7
http://hdl.handle.net/10852/72301
http://hdl.handle.net/10852/72301
Publikováno v:
Orphanet Journal of Rare Diseases
Background Hereditary spastic paraparesis (HSP) is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Complex HSP involves additional neurologic symptoms and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c853c3153e096c54926db11e1554848f
https://pubmed.ncbi.nlm.nih.gov/27412159
https://pubmed.ncbi.nlm.nih.gov/27412159
Publikováno v:
European journal of medical genetics. 59(4)
The present study aimed to further our understanding of Kleefstra syndrome, especially regarding motor function and behavioral characteristics. In total, four males and four females between two and 27 years of age with a genetically confirmed diagnos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfebe768e3957e3e7910cc67dff5e65b
https://pubmed.ncbi.nlm.nih.gov/26808425
https://pubmed.ncbi.nlm.nih.gov/26808425