Steven Nasioulas

High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs

Howard R. Slater, Dione K. Bailey, Hua Ren et al. · The American Journal of Human Genetics · 2005 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

John F. Bateman, Susanna Freddi, Shireen R. Lamand� et al. · Human Mutation · 1999 · 62 citations

Life Sciences, Genetics, Molecular Biology +17

<i>ADGRV1</i> is implicated in myoclonic epilepsy

Kenneth A. Myers, Steven Nasioulas, Amber Boys et al. · Epilepsia · 2017 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The clinical correlates of a 3' truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene

R. J. M. Gardner, D Kool, Edward Edkins et al. · Gastroenterology · 1997 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.

S Distante, Steven Nasioulas, Gino R. Somers et al. · Journal of Medical Genetics · 1996 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17