Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Joanne Croft"'
Autor:
Simon E. Olpin, Shirley Clark, Jane Dalley, Brage S. Andresen, Joanne Croft, Camilla A. Scott, Aneal Khan, Richard J. Kirk, Rebecca Sparkes, Marisa Chard, Alicia Chan, Emma Glamuzina, Jean Bastin, Nigel J. Manning, Rodney J. Pollitt
Publikováno v:
International Journal of Neonatal Screening, Vol 3, Iss 1, p 2 (2017)
Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) is a clinically heterogeneous disorder with three major phenotypes: severe neonatal/infantile, milder childhood and late onset myopathic. VLCADD is genetically heterogeneous with numerous pat
Externí odkaz:
https://doaj.org/article/b8698ab65b934b559c33cf4ea396d746
Autor:
Déborah Mathis, Joanne Croft, Petr Chrastina, Brian Fowler, Christine Vianey‐Saban, George J. G. Ruijter
Publikováno v:
Journal of inherited metabolic disease. 45(5)
External quality assurance (EQA) is crucial to monitor and improve the quality of biochemical genetic testing. ERNDIM (www.erndim.org), established in 1994, aims at reliable and standardized procedures for diagnosis, treatment and monitoring of inher
Autor:
Joanne Croft
Publikováno v:
Nursing and Residential Care. 19:96-99
Measuring the quality of multiple homes can be incredibly difficult. In this article, Joanne Croft describes the use of a quality monitoring system, that incorporates both qualitative and quantitative data to provide an accurate overview of each home
Autor:
Linda O'Flaherty, Alexander V. Zhdanov, Patrick J. Pollard, Houman Ashrafian, Yuen-Li Chung, John R. Griffiths, Christopher W. Pugh, Lisa C. Heather, Kieran Clarke, Joanne Croft, Julie Adam, Simon E. Olpin, Peter J. Ratcliffe, Melroy X. Miranda, Dmitri B. Papkovsky
Publikováno v:
Human molecular genetics. 19(19)
Mutations in the gene encoding the Krebs cycle enzyme fumarate hydratase (FH) predispose to hereditary leiomyomatosis and renal cell cancer in affected individuals. FH-associated neoplasia is characterized by defective mitochondrial function and by u
Autor:
Sandra J, Engle, Ilona, Ormsby, Sharon, Pawlowski, Gregory P, Boivin, Joanne, Croft, Edward, Balish, Tom, Doetschman
Publikováno v:
Cancer research. 62(22)
Patients with ulcerative colitis are at risk for colon cancer and frequently have microsatellite instability,which, in turn, is usually associated with inactivation of transforming growth factor (TGF) beta signaling. TGF-beta1 deficiency in mice can