Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Reimar C, Junckerstorff"'
Autor:
Macarena, Cabrera-Serrano, Reimar C, Junckerstorff, Vanessa, Atkinson, Padma, Sivadorai, Richard J, Allcock, Phillipa, Lamont, Nigel G, Laing
Publikováno v:
Musclenerve. 51(1)
Mutations in the choline kinase beta (CHKB) gene are associated with a congenital muscular dystrophy with giant mitochondria at the periphery of muscle fibers.We describe a patient of Italian origin in whom whole-exome sequencing revealed a novel hom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::82dea3d737ddc9d843e1ddfa862ef64a
https://pubmed.ncbi.nlm.nih.gov/25187204
https://pubmed.ncbi.nlm.nih.gov/25187204
Autor:
Shoshana R, Rath, Sharon, Lee, Rishi S, Kotecha, Mandy, Taylor, Reimar C, Junckerstorff, Catherine Sy, Choong
Publikováno v:
Journal of paediatrics and child health. 49(5)
A retrospective audit was undertaken to evaluate modes of presentation and treatment outcomes for craniopharyngioma in a single paediatric institution over a 20-year period.A search of the neurosurgical and histopathological databases for patients un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd5fccba3e1573b152235d1905bcedca
https://pubmed.ncbi.nlm.nih.gov/23560768
https://pubmed.ncbi.nlm.nih.gov/23560768