A. Taylor

发表

Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia

S. Humphries, S. Humphries, M. Sozen, 2007, Clinical genetics.

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal

P. Goodfellow, P. Berta, A. Taylor, 1992, Human Genetics.

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

S. G. Hadfield, M. Farrer, S. Humphries, 2010, Clinical genetics.

Evidence forIncreased Prevalence ofSRY Mutations inXY FemaleswithCompleteRatherthanPartial GonadalDysgenesis

P. Goodfellow, A. Taylor, Kirby D. Smith, 1992 .

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.

P. Goodfellow, C. Migeon, G. Berkovitz, 1992, American journal of human genetics.

Mutation screening in patients for familial hypercholesterolaemia (ADH)

S. Humphries, A. Taylor, G. Norbury, 2010, Clinical genetics.

Homozygous hypercholesterolaemia and ezetimibe: a case report

S. Humphries, C. Hendriksz, A. Taylor, 2004, Acta paediatrica.

Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.

P. Goodfellow, T. Ogata, J. Hata, 1992, Journal of medical genetics.

Multiplex ligation‐dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia

S. Humphries, S. Humphries, A. Taylor, 2009, Clinical genetics.

Short‐arm deletion, chromosome 4, (4p‐), a syndrome?

A. Taylor, D. Challacombe, R. M. Howlett, 1970, Annals of human genetics.

Monosomy for a G autosome.

A. Taylor, D. Challacombe, Angela I. Taylor, 1969, Archives of disease in childhood.