R.A. Mullaart

The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

Jan Loeffen, Ralf Triepels, Roel Smeets et al. · The American Journal of Human Genetics · 1998 · 282 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

Parents’ personality and parenting stress in families of children with spina bifida

I.P.R. Vermaes, Jan Janssens, R.A. Mullaart et al. · Child Care Health and Development · 2008 · 80 citations

MECP2 Mutation in a Boy with Severe Neonatal Encephalopathy: Clinical, Neuropathological and Molecular Findings

Niels Geerdink, Joost Rotteveel, Martin Lammens et al. · Neuropediatrics · 2002 · 72 citations

Mecp2 Screening, Developmental Anomaly, Rare Diseases +14

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Frans A. Hol, Ben C.J. Hamel, M.P.A. Geurds et al. · Journal of Medical Genetics · 1995 · 60 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +15

Calibrated Parametric Medical Ultrasound Imaging

F.M.J. Valckx, J.M. Thijssen, Albert J van Geemen et al. · Ultrasonic Imaging · 2000 · 54 citations