Zobrazeno 1 - 10
of 196
pro vyhledávání: '"Quaghebeur, G."'
Publikováno v:
In Clinical Radiology September 2016 71(9):815-827
Autor:
Rane, N., Quaghebeur, G.
Publikováno v:
In Clinical Radiology 2012 67(1):61-68
Publikováno v:
In Clinical Radiology 2009 64(1):84-94
Publikováno v:
Clinical Case Reports
Key Clinical Message This report constitutes the first report of a cryptic exonic splice‐donor site in CDK5RAP2, highlights the importance of evaluating novel splice mutations, and suggests that the phenotypic range associated with CDK5RAP2 mutatio
Autor:
Alston, CL, Heidler, J, Dibley, MG, Kremer, LS, Taylor, LS, Fratter, C, French, CE, Glasgow, RIC, Feichtinger, RG, Delon, I, Pagnamenta, AT, Dolling, H, Lemonde, H, Aiton, N, Bjørnstad, A, Henneke, L, Gärtner, J, Thiele, H, Tauchmannova, K, Quaghebeur, G, Houstek, J, Sperl, W, Raymond, FL, Prokisch, H, Mayr, JA, McFarland, R, Poulton, J, Ryan, MT, Wittig, I, Henneke, M, Taylor, RW
Publikováno v:
Am. J. Hum. Genet. 103, 592-601 (2018)
American Journal of Human Genetics
American Journal of Human Genetics
Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the similar to 65 genes encoding the complex I structural subunits o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7d80d600246ac70ef8c2bf3a169d48
https://www.repository.cam.ac.uk/handle/1810/293025
https://www.repository.cam.ac.uk/handle/1810/293025
Autor:
Ng, YS, Hardy, SA, Shrier, V, Quaghebeur, G, Mole, DR, Daniels, MJ, Downes, SM, Freebody, J, Fratter, C, Hofer, M, Nemeth, AH, Poulton, J, Taylor, RW
Publikováno v:
Neuromuscular Disorders
Ng, Y S, Hardy, S A, Shrier, V, Quaghebeur, G, Mole, D R, Daniels, M J, Downes, S M, Freebody, J, Fratter, C, Hofer, M, Nemeth, A H, Poulton, J & Taylor, R W 2016, ' Clinical features of the pathogenic m.5540G >A mitochondrial transfer RNA tryptophan gene mutation ', Neuromuscular disorders, vol. 26, no. 10, pp. 702-705 . https://doi.org/10.1016/j.nmd.2016.08.009
Ng, Y S, Hardy, S A, Shrier, V, Quaghebeur, G, Mole, D R, Daniels, M J, Downes, S M, Freebody, J, Fratter, C, Hofer, M, Nemeth, A H, Poulton, J & Taylor, R W 2016, ' Clinical features of the pathogenic m.5540G >A mitochondrial transfer RNA tryptophan gene mutation ', Neuromuscular disorders, vol. 26, no. 10, pp. 702-705 . https://doi.org/10.1016/j.nmd.2016.08.009
Highlights • Longitudinal increase in mtDNA mutant load reflects worsening muscle histochemistry. • De novo m.5540G>A mtDNA mutation adds to its credentials as a pathogenic mutation. • Additional clinical findings are cataract, kidney disease a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e231d3824cd37e270d3c9bf038cd00d3
https://ora.ox.ac.uk/objects/uuid:a6efcf34-3648-47f7-affd-d3ebf3c082a1
https://ora.ox.ac.uk/objects/uuid:a6efcf34-3648-47f7-affd-d3ebf3c082a1
Autor:
Pagnamenta, A, Lise, S, Harrison, V, Kini, U, Stewart, H, Quaghebeur, G, Deng, A, Taylor, JC, Keays, DC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0fe068c412cc79e8a2423b54db13db5c
https://ora.ox.ac.uk/objects/uuid:0b128d24-1dc5-4000-a560-ad62384c628f
https://ora.ox.ac.uk/objects/uuid:0b128d24-1dc5-4000-a560-ad62384c628f
Autor:
Poulton, Joanna, Liao, C., Ashley, N., Morten, K., Phadwal, K., Williams, A., Feamley, I., Rosser, L., Lowndes, J., Fratter, C., Ferguson, D., Quaghebeur, G., Moroni, I., Bianchi, S., Lamperti, C., Macleod, L., Downes, S., Zeviani, M., Simon, A. K., Marcela Votruba
Publikováno v:
Web of Science
ResearcherID
ResearcherID
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4a14fe4bf0314ac695cd21704667abce
https://ora.ox.ac.uk/objects/uuid:2088e6b7-6643-4d09-b0b8-0eaca07c29c1
https://ora.ox.ac.uk/objects/uuid:2088e6b7-6643-4d09-b0b8-0eaca07c29c1
Publikováno v:
BMJ-BRITISH MEDICAL JOURNAL
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::033976188e9bd32ff9796acbdf900893
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14173
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14173