Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Clare Le Masurier"'
Autor:
Stuart J. Moat, James R. Bonham, Christine Cavanagh, Margaret Birch, Caroline Griffith, Lynette Shakespeare, Clare Le Masurier, Claire Manfredonia, Beverly Hird, Philippa Goddard, Sarah Smith, Laura Wainwright, Rachel S. Carling, Jennifer Cundick, Fiona Jenkinson, Catherine Collingwood, Nick Flynn, Nazia Taj, Mehdi Mirzazadeh, Tejswurree Ramgoolam, Liz Robinson, Amy Headley, Tessa Morgan, David Elliman, Lesley Tetlow
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 60 (2024)
In 2015, U.K. newborn screening (NBS) laboratory guidelines were introduced to standardize dried blood spot (DBS) specimen quality acceptance and specify a minimum acceptable DBS diameter of ≥7 mm. The UK ‘acceptable’ avoidable repeat rate (AVR
Externí odkaz:
https://doaj.org/article/e1869e2c554c441f999c02d26ed790dd
Autor:
Rachel S Carling, Emily Whyte, Catharine John, Rachelle Garstone, Philippa Goddard, Toby Greenfield, Sarah L Hogg, Clare Le Masurier, Simon Cowen, Stuart J Moat, Christopher Hopley
Publikováno v:
Clinical chemistry. 68(8)
Background Newborn screening (NBS) laboratories in the United Kingdom adhere to common protocols based on single analyte cutoff values (COVs); therefore, interlaboratory harmonization is of paramount importance. Interlaboratory variation for screenin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::674b3eec2e915acfa24630733a3566ca
https://pubmed.ncbi.nlm.nih.gov/35699503
https://pubmed.ncbi.nlm.nih.gov/35699503
Autor:
Elena Rostkova, Mathias Gautel, Abdessamad Ababou, Clare Le Masurier, Mark Pfuhl, Shreena Mistry
Publikováno v:
Journal of Molecular Biology
Myosin binding protein C (MyBP-C) is a thick filament protein involved in the regulation of muscle contraction. Mutations in the gene for MyBP-C are the second most frequent cause of hypertrophic cardiomyopathy. MyBP-C binds to myosin with two bindin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::281767e4e4b83c212d127ec113aad611