I H Ellis

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis

Andrew P. South, G H S Ashton, Colin E. Willoughby et al. · British Journal of Dermatology · 2002 · 35 citations

Life Sciences, Dermatology, Genetics +10

Myotubular myopathy: morphological, immunohistochemical and clinical variation

Timothy R. Helliwell, I H Ellis, Richard Appleton · Neuromuscular Disorders · 1998 · 31 citations

Medicine, Pathobiology, Pathology +12

Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.

E C Landels, I H Ellis, Anthony H. Fensom et al. · Journal of Medical Genetics · 1991 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.

E C Landels, P M Green, I H Ellis et al. · Journal of Medical Genetics · 1992 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

Emma McCann, Stephen B. Kaye, William G. Newman et al. · American Journal of Medical Genetics Part A · 2005 · 15 citations

Medicine, Genetics, Molecular Genetics +17