Publications by authors named "William Bottomley"

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Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.
Isabel Huang-Doran, Patsy Tomlinson, Felicity Payne, Alexandra Gast, Alison Sleigh, William Bottomley

JCI Insight· October 2016

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Conjunctival fibrosis and the innate barriers to Chlamydia trachomatis intracellular infection: a genome wide association study.
Chrissy h Roberts, Christopher S Franklin, Pateh Makalo, Hassan Joof, Isatou Sarr, William Bottomley

Sci Rep· November 2015

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Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
Felicity Payne, Rita Colnaghi, Nuno Rocha, Asha Seth, Julie Harris, William E Bottomley

J Clin Invest· September 2014

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Perilipin deficiency and autosomal dominant partial lipodystrophy.
Sheetal Gandotra, Caroline Le Dour, William Bottomley, Pascale Cervera, Philippe Giral

N Engl J Med· February 2011

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Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
Oscar Rubio-Cabezas, Vishwajeet Puri, Incoronata Murano, Vladimir Saudek, Robert K Semple, William Bottomley

EMBO Mol Med· August 2009

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Mutations of the BRAF gene in human cancer.
Helen Davies, Graham R Bignell, Charles Cox, Philip Stephens, Sarah Edkins, William Bottomley

Nature· June 2002

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