Zobrazeno 1 - 10
of 50
pro vyhledávání: '"L. Tyfield"'
Publikováno v:
BioTechniques, Vol 21, Iss 1, Pp 134-140 (1996)
Because of complex interactions among the components of PCR and the wide and increasing variety of applications in which this technique is used, optimization is necessary for every reaction. Here we describe the use of experimental design techniques
Externí odkaz:
https://doaj.org/article/2c39033183a949a8a099bc1686d29ff1
Publikováno v:
Neuropathology and Applied Neurobiology. 30:188-191
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::792fd286259137da128a56f1f5e4eaed
https://doi.org/10.1046/j.0305-1846.2003.00520.x
https://doi.org/10.1046/j.0305-1846.2003.00520.x
Publikováno v:
Europe PubMed Central
Because of complex interactions among the components of PCR and the wide and increasing variety of applications in which this technique is used, optimization is necessary for every reaction. Here we describe the use of experimental design techniques
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04533f978f3b5184ef03b5523e2a1572
https://doi.org/10.2144/96211rr05
https://doi.org/10.2144/96211rr05
Autor:
L Tyfield, Emma Jane Kirsty Wadsworth, A MacDonald, A Stephenson, Neil Marlow, J B Holton, Julian P.H. Shield
Publikováno v:
Archives of Disease in Childhood. 83:248-250
Aims—To evaluate the cognitive outcome of a cohort of children with galactosaemia in relation to genotype. Methods—The cohort was drawn from children notified to the British Paediatric Surveillance Unit galactosaemia study which ran from 1988 to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a17ccf39623957cb1b4e11f1369f3345
https://doi.org/10.1136/adc.83.3.248
https://doi.org/10.1136/adc.83.3.248
Publikováno v:
Neuropathology and applied neurobiology. 30(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5bb5c950d32d817072abe8eac00b950e
https://pubmed.ncbi.nlm.nih.gov/15043716
https://pubmed.ncbi.nlm.nih.gov/15043716
Autor:
L, Tyfield, J, Reichardt, J, Fridovich-Keil, D T, Croke, L J, Elsas, W, Strobl, L, Kozak, T, Coskun, G, Novelli, Y, Okano, C, Zekanowski, Y, Shin, M D, Boleda
Publikováno v:
Human mutation. 13(6)
Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene. The disorder exhibits considerable allelic heterogeneity and, at the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::361415df4d195b791a61faf43d4df19d
https://pubmed.ncbi.nlm.nih.gov/10408771
https://pubmed.ncbi.nlm.nih.gov/10408771
Publikováno v:
Lancet (London, England). 349(9066)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0da20a424ad105d8724018c1f7eb4cd3
https://pubmed.ncbi.nlm.nih.gov/9186390
https://pubmed.ncbi.nlm.nih.gov/9186390
Autor:
P.W. Lunt, L Tyfield, S A Johnson, Philip D. Cotter, E. J. Fitzsimons, D F Bishop, P E Jardine
A son and daughter of unaffected parents had transfusion dependent, pyridoxine-refractory sideroblastic anaemia from birth. Their haemoglobin levels were 4.3 and 6.4 g/dl, respectively. delta-Aminolaevulinate synthase activity in erythroblasts from f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cc2ada7c0582ebe0392b949c5cabda1
https://europepmc.org/articles/PMC1049745/
https://europepmc.org/articles/PMC1049745/
Autor:
J.B. Holton, L. Tyfield
Neonatal screening for phenylketonuria and hypothyroidism is well established in most developed countries but there is no clear agreement on which other disorders, if any, should be added to screening programmes. This article describes the basic prin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50dea7b5380e2ab427386d45b692ccb3
https://doi.org/10.1016/b978-0-7506-0167-2.50020-0
https://doi.org/10.1016/b978-0-7506-0167-2.50020-0
Autor:
J.B. Holton, L. Tyfield
Publisher Summary This chapter discusses the prenatal diagnosis of inherited metabolic diseases. For many congenital disorders, preventive measures can be initiated only during the pregnancy . Because screening tests available are reliable, relativel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de392b6498f26f3cd1014f1dea5e7899
https://doi.org/10.1016/b978-0-7506-0167-2.50019-4
https://doi.org/10.1016/b978-0-7506-0167-2.50019-4