Zobrazeno 1 - 10
of 20
pro vyhledávání: '"R. J. Daniels"'
Autor:
R. J. Daniels, Steven J. Main
Publikováno v:
The Journal of Slavic Military Studies. 29:167-169
The Russian Military Studies Archive (RMSA) was formally launched in November 2015. Managed by Cranfield University’s Barrington Library on behalf of the Defence Academy, the RMSA is a new research facility based at the Defence Academy of the Unite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82026a0de33dc3279fffcc755db37947
https://doi.org/10.1080/13518046.2016.1129886
https://doi.org/10.1080/13518046.2016.1129886
Autor:
D. B. Grant, Andrew O.M. Wilkie, M. Mullarkey, S. M. Huson, F. M. Campbell, Piers E.F. Daubeney, R. J. Daniels, M. Fitchett, Nabeel A. Affara
Publikováno v:
American Journal of Medical Genetics. 46:597-600
We describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY,del(10)(q26.1)] had female external genitalia; the other [karyotype 46,XY,−10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa03620637427bb33629c8f6b446182d
https://doi.org/10.1002/ajmg.1320460527
https://doi.org/10.1002/ajmg.1320460527
Autor:
Kevin Clark, Blanche P. Alter, Douglas R. Higgs, Jonathan Flint, John F. Peden, R. J. Daniels, Jonathan Frampton, Kian Tan-Un, Cristina Tufarelli, Ross C. Hardison, Webb Miller, Tara McMorrow, Sjaak Philipsen, Anna Marie Frischauf
Publikováno v:
Human Molecular Genetics, 10(4), 1-12. Oxford University Press
We have cloned, sequenced and annotated segments of DNA spanning the mouse, chicken and pufferfish alpha globin gene clusters and compared them with the corresponding region in man. This has defined a small segment ( approximately 135-155 kb) of synt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfddfacee37da840cd89b557a6409c7c
https://pubmed.ncbi.nlm.nih.gov/11157800
https://pubmed.ncbi.nlm.nih.gov/11157800
Autor:
T. C. Gilliam, L. M. Brzustowicz, L. H. Castilla, T. Lehner, G. K. Penchaszadeh, R. J. Daniels, B. C. Byth, J. Knowles, J. E. Hislop, Y. Shapira, V. Dubowitz, T. L. Munsat, J. Ott, K. E. Davies
Publikováno v:
Nature. 345:823-825
The childhood-onset spinal muscular atrophies (SMAs) describe a heterogeneous group of disorders that selectively affect the alpha motoneuron. We have shown that chronic childhood-onset SMA (SMA II and III) maps to a single locus on chromosome 5q. Ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ade367aa5670a9ba3377fb205f93609
https://doi.org/10.1038/345823a0
https://doi.org/10.1038/345823a0
Autor:
R J Daniels
Publikováno v:
Journal of accidentemergency medicine. 15(5)
A case is presented of serotonin syndrome after deliberate overdose of the antidepressant venlafaxine. The mechanism, diagnosis, and management of this disorder is discussed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76306d1ed4d795d84a1ff6fc873125aa
https://pubmed.ncbi.nlm.nih.gov/9785164
https://pubmed.ncbi.nlm.nih.gov/9785164
Autor:
R J Daniels, R A Fulcher
Publikováno v:
Journal of accidentemergency medicine. 14(2)
A case is presented which is thought to be the first described example of rib fracture occurring as a result of airbag inflation. It would appear that the propellant cartridge came loose during deployment to form a missile, striking the patient on hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e36d29071019e34dc739166fd3de3205
https://pubmed.ncbi.nlm.nih.gov/9132187
https://pubmed.ncbi.nlm.nih.gov/9132187
Autor:
A M, Theodosiou, K E, Morrison, A M, Nesbit, R J, Daniels, L, Campbell, M J, Francis, Z, Christodoulou, K E, Davies
Publikováno v:
American journal of human genetics. 55(6)
Childhood-onset proximal spinal muscular atrophy (SMA) is a heritable neurological disorder, which has been mapped by genetic linkage analysis to chromosome 5q13, in the interval between markers D5S435 and D5S557. Here, we present gene sequences that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3961741ea01d8769487c0438d00315d7
https://pubmed.ncbi.nlm.nih.gov/7977382
https://pubmed.ncbi.nlm.nih.gov/7977382
Autor:
Judith Melki, Teepu Siddique, Brunhilde Wirth, C. Merette, T. C. Gilliam, Jurg Ott, B. Voosen, R. J. Daniels, Kay E. Davies, Linda M. Brzustowicz, A. Munnich, Margaret A. Pericak-Vance
Publikováno v:
Genomics. 21(1)
The authors performed linkage analysis of 161 families with spinal muscular atrophy (SMA) in which affected individuals suffer from the intermediate or mild form of the disease (Types II or III). Markers for six loci encompassing the chromosome 5q11.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0e9c6395e697b5ebfa2b601274bbcf
https://pubmed.ncbi.nlm.nih.gov/8088801
https://pubmed.ncbi.nlm.nih.gov/8088801
Autor:
Anne Marie Frischauf, R. J. Daniels, Karen E. Morrison, Kay E. Davies, L Campbell, John Douglas Mcpherson, Michael J. Francis, Anthony P. Monaco, Zoe Christodoulou, Prabhjit K. Grewal, John J. Wasmuth
Publikováno v:
Human molecular genetics. 2(8)
We have constructed a contig of non-chimaeric yeast artificial chromosomes (YACs) across the candidate region for childhood autosomal recessive spinal muscular atrophy (SMA) in 5q13. A novel microsatellite reduces the candidate region to approximatel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79925821ed8ad6d99abf54f686407229
http://ora.ox.ac.uk/objects/uuid:781e489a-f269-4631-9af0-9e7905966d52
http://ora.ox.ac.uk/objects/uuid:781e489a-f269-4631-9af0-9e7905966d52
Autor:
K E, Morrison, R J, Daniels, G K, Suthers, G A, Flynn, M J, Francis, V J, Buckle, K E, Davies
Publikováno v:
American journal of human genetics. 50(3)
Although autosomal recessive spinal muscular atrophy (SMA) has been mapped to chromosome 5q12-q13, there is for this region no genetic map based on highly informative markers. In this study we present the mapping of two previously reported microsatel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1399680774a0505ef039123f65c3527e
https://pubmed.ncbi.nlm.nih.gov/1539593
https://pubmed.ncbi.nlm.nih.gov/1539593