Andrew Norman

A genetic register for von Hippel-Lindau disease.

I R Maddock, Anthony Moran, Eamonn R. Maher et al. · Journal of Medical Genetics · 1996 · 269 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +15

The mutational spectrum in Waardenburg syndrome

Mayada Tassabehji, Valerie Newton, X.-Z. Liu et al. · Human Molecular Genetics · 1995 · 223 citations

Developmental Anomaly, Type 1, Mendelian Disorder +9

Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 122 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Molecular Neuroscience +7

Recurrent Wiedemann‐Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5)

Andrew Norman, Andrew Read, Jill Clayton‐Smith et al. · American Journal of Medical Genetics · 1992 · 114 citations

Developmental Anomaly, Mendelian Disorder, Recurrent Wiedemann‐beckwith Syndrome +15

Radiation-induced brachial plexopathy in women treated for carcinoma of the breast

Edward Fathers, David Thrush, Susan Huson et al. · Clinical Rehabilitation · 2002 · 106 citations