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Posters and publications

Recent publications

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

Richards AJ, McNinch A, Martin H, Oakhill K, Rai H, Waller S, Treacy B, Whittaker J, Meredith S, Poulson A, Snead MP.
Hum Mutat. 2010 Jun;31(6):E1461-71.

Critical consequences of finding three pathogenic mutations in an individual with recessive disease.
Halsall S, Nicholas AK, Thornton G, Martin H, Geoffrey Woods C.
J Med Genet. 2010 Nov;47(11):769-70. Epub 2010 Aug 2.

Posters

Reducing the need to Southern blot for Fragile X; an evaluation of the Asuragen AmplideXTM FMR1 kit

Probe and high resolution melt analysis for Cystic Fibrosis and Hereditary Haemochromatosis using the Corbett Rotor-Gene 6000

An unusual derivative Y chromosome identified at prenatal diagnosis

Type 3 von Willebrand Disease - A case report of a homozygous partial VWF gene deletion

Newborn screening for cystic fibrosis