Publications by authors named "Tom Cullup"

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A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.
Lara Menzies, Tom Cullup, Alistair Calder, Louise Wilson, Francesca Faravelli

Clin Dysmorphol· October 2019

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Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.
Amina Al Yassin, Felice D'Arco, Matías Morín, Waheeda Pagarkar, Katherine Harrop-Griffiths, Tom Cullup

Genes (Basel)· July 2019

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Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.
Stephanie A Robb, Caroline A Sewry, James J Dowling, Lucy Feng, Tom Cullup

Neuromuscul Disord· June 2011

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Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.
Heinz Jungbluth, Tom Cullup, Suzanne Lillis, Haiyan Zhou, Stephen Abbs

Neuromuscul Disord· January 2010

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ABCA12 is the major harlequin ichthyosis gene.
Anna C Thomas, Tom Cullup, Elizabeth E Norgett, Tara Hill, Stephanie Barton

J Invest Dermatol· November 2006

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