Zobrazeno 1 - 7
of 7
pro vyhledávání: '"M J, Keogh"'
Autor:
M J, Keogh, M, Kurzawa-Akanbi, H, Griffin, K, Douroudis, K L, Ayers, R I, Hussein, G, Hudson, A, Pyle, H J, Cordell, J, Attems, I G, McKeith, J T, O'Brien, D J, Burn, C M, Morris, A J, Thomas, P F, Chinnery
Publikováno v:
Translational Psychiatry
Dementia with Lewy bodies (DLB) is the second most common form of degenerative dementia. Siblings of affected individuals are at greater risk of developing DLB, but little is known about the underlying genetic basis of the disease. We set out to dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::363ca28fde1d5d1b545be497c9106650
https://pubmed.ncbi.nlm.nih.gov/26836416
https://pubmed.ncbi.nlm.nih.gov/26836416
Autor:
M J, Keogh, H, Steele, K, Douroudis, A, Pyle, J, Duff, R, Hussain, T, Smertenko, H, Griffin, M, Santibanez-Koref, R, Horvath, P F, Chinnery
Publikováno v:
Journal of Neurology
Sporadic late onset cerebellar ataxia is a well-described clinical presentation with a broad differential diagnosis that adult neurologists should be familiar with. However, despite extensive clinical investigations, an acquired cause is identified i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0504c2c817b9a3816c5a528abdf718ca
https://pubmed.ncbi.nlm.nih.gov/25976027
https://pubmed.ncbi.nlm.nih.gov/25976027
Publikováno v:
Practical neurology. 13(6)
Glossary of terms Calling . The process of determining the DNA bases or regions in sequenced subjects that differ from the reference exome or genome. Coverage . The number of times a single nucleotide in a sequence has been sequenced or read. Exons.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7437a78e756799aa8aa6639987b8f508
https://pubmed.ncbi.nlm.nih.gov/23727621
https://pubmed.ncbi.nlm.nih.gov/23727621
Publikováno v:
The Journal of bone and joint surgery. British volume. 93(3)
We performed a retrospective study of a departmental database to assess the efficacy of a new model of orthopaedic care on the outcome of patients with a fracture of the proximal femur. All 1578 patients admitted to a university teaching hospital wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc5b1dd3f8a7f0fce3daa34d8d872242
https://pubmed.ncbi.nlm.nih.gov/21357963
https://pubmed.ncbi.nlm.nih.gov/21357963
Publikováno v:
American journal of medical genetics. 66(2)
We report on a boy with clinical and radiologic findings of osteoglophonic dysplasia. He had craniostenosis, "bizarre," expansile cystic lesions in the diaphyses, delayed tooth eruption, and progressive rib expansion typical of the syndrome. Initiall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9c8da39db04e4edf3c0c9feca4a41e59
https://pubmed.ncbi.nlm.nih.gov/8958322
https://pubmed.ncbi.nlm.nih.gov/8958322
Publikováno v:
Chemischer Informationsdienst. 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e24dffc28b319472e53f381148d56c35
https://doi.org/10.1002/chin.197322146
https://doi.org/10.1002/chin.197322146
Autor:
Findlay JM; Department of General Surgery, Royal Berkshire Hospital, Reading., Spencer S, Bosworth K, J Keogh M
Publikováno v:
British journal of hospital medicine (London, England : 2005) [Br J Hosp Med (Lond)] 2011 Jan; Vol. 72 (1), pp. M2-3.