Z Miedzybrodzka

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Rikke Katrine Jentoft Olsen, S. E. Olpin, Brage Storstein Andresen et al. · Brain · 2007 · 328 citations

Life Sciences, Biochemistry, Molecular Genetics +15

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Sandy Hsu, Renee Sears, Roberta R. Lemos et al. · Neurogenetics · 2013 · 147 citations · Full text

Life Sciences, Genetics, Neurology +10

Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK

Marion Kerr, Robert Pears, Z Miedzybrodzka et al. · European Heart Journal · 2017 · 128 citations · Full text

Pharmacy, Genetics, Pharmacoeconomics +17

Pedigree analysis and epidemiological features of idiopathic congenital talipes equinovarus in the United Kingdom: a case-control study

A. H. Cardy, Scott Barker, David Chesney et al. · BMC Musculoskeletal Disorders · 2007 · 61 citations · Full text

Life Sciences, Genetics, Obstetrics +17

Stepwise or couple antenatal carrier screening for cystic fibrosis?: women's preferences and willingness to pay.

Z Miedzybrodzka, J Semper, Phil Shackley et al. · Journal of Medical Genetics · 1995 · 55 citations · Full text

Medicine, Obstetrics, Preventive Medicine +12