Agnes Bankier

Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

C. Geoffrey Woods, Agnes Bankier, John Curry et al. · Journal of Medical Genetics · 1994 · 151 citations · Full text

Skin Pigmentary Anomalies, Cytogenetics, Genetics +17

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

Mark R. Davis, Eric Haan, Heinz Jungbluth et al. · Neuromuscular Disorders · 2003 · 132 citations

Mendelian Disorder, Genetic Disorder, Principal Mutation Hotspot +14

Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.

Howard R. Slater, J H Shaw, G.W. Dawson et al. · Journal of Medical Genetics · 1994 · 121 citations · Full text

Chromatin, Infertility, Cytogenetics +13

Pyridoxine dependent seizures--a wider clinical spectrum.

Agnes Bankier, M. Turner, I. J. Hopkins · Archives of Disease in Childhood · 1983 · 117 citations · Full text

Clinical Disorders, Molecular Neuroscience, Pyridoxine Dependent Seizures +13

A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

David I. Wilson, I E Cross, Judith A. Goodship et al. · PubMed · 1992 · 108 citations