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Akademický článek
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Autor:
Fernandez Bridget A, Green Jane S, Bursey Ford, Barrett Brendan, MacMillan Andrée, McColl Sarah, Fernandez Sara, Rahman Proton, Mahoney Krista, Pereira Sergio L, Scherer Stephen W, Boycott Kym M, Woods Michael O
Publikováno v:
BMC Medical Genetics, Vol 13, Iss 1, p 111 (2012)
Abstract Background Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Its core features are congenital neutropenia and a prominent veno
Externí odkaz:
https://doaj.org/article/0b204c94af4c404988610ac3b83d6484
Publikováno v:
BMC Medical Research Methodology, Vol 12, Iss 1, p 161 (2012)
Abstract Background Electronic linkage to routine administrative datasets, such as the Hospital Episode Statistics (HES) in England, is increasingly used in medical research. Relatively little is known about the reliability of HES diagnostic informat
Externí odkaz:
https://doaj.org/article/28206e7cdc224623aa395100c2e375ea
Publikováno v:
BMC Neurology, Vol 12, Iss 1, p 25 (2012)
Abstract Background Motor neuron disease (MND) is a severe neurodegenerative disease with largely unknown etiology. Most epidemiological studies are hampered by small sample sizes and/or the retrospective collection of information on behavioural and
Externí odkaz:
https://doaj.org/article/23f0f90d09d24e81b3c1ae833ecac727
Autor:
Watkins Kathy E, Way Christine Y, Fiander Jacqueline J, Meadus Robert J, Esplen Mary, Green Jane S, Ludlow Valerie C, Etchegary Holly A, Parfrey Patrick S
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 9, Iss 1, p 8 (2011)
Abstract Background Lynch syndrome is a hereditary cancer with confirmed carriers at high risk for colorectal (CRC) and extracolonic cancers. The purpose of the current study was to develop a greater understanding of the factors influencing decisions
Externí odkaz:
https://doaj.org/article/47348ad248214872a6d2ba73f06958ce