S. Genet

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Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2Rγ chain gene by single-strand conformation polymorphism analysis

R. Levinsky, P. Clark, R. Hendriks, 1995, Human Genetics.

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

R. Winter, A. Wilkie, P. Harper, 2001, The Journal of clinical endocrinology and metabolism.

Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning.

J. Hurst, S. Malcolm, E. Young, 1992, American journal of medical genetics.

Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.

S. Genet, J. Harper, R. Coleman, 1993, Journal of medical genetics.

A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage

M. Rose, J. Morgan-Hughes, S. Genet, 1993, Muscle & nerve.

B-cell-negative severe combined immunodeficiency associated with a common γ chain mutation

P. Clark, C. Kinnon, S. Genet, 1997, Human Genetics.

Identification of deletions in thebtk gene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia

D. Bentley, D. Vetrie, R. Lovering, 1994, Human Genetics.

Carrier determination for X-linked agammaglobulinemia using X inactivation analysis of purified B cells.

R. Lovering, R. Levinsky, S. Malcolm, 1993, Journal of immunological methods.

Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy.

K. Davies, D. Love, T. Flint, 1991, Journal of medical genetics.

The major cystic fibrosis mutation in a British population

M. Pembrey, S. Malcolm, H. Middleton-Price, 1990, Human Genetics.

minigenes and gene therapy . deletion : implications for functional with a large intragenic dystrophin Becker muscular dystrophy patient

K. Davies, D. Love, T. Flint, 2022 .

Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia

R. Levinsky, S. Malcolm, C. Kinnon, 1993, Human Genetics.

Pitfalls in counselling: the craniosynostoses.

L. Chitty, M. Baraitser, K. Temple, 1991, Journal of medical genetics.