V. Ramaekers

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in <i>KCNJ10</i>

Ute I. Scholl, Murim Choi, Tiewen Liu et al. · Proceedings of the National Academy of Sciences · 2009 · 493 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome

V. Ramaekers, Sheldon P. Rothenberg, Jeffrey M. Sequeira et al. · New England Journal of Medicine · 2005 · 283 citations · Full text

Public Health, Neurology, Neuroscience +14

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Kym M. Boycott, Chandree L. Beaulieu, Kristin D. Kernohan et al. · The American Journal of Human Genetics · 2015 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Cerebral folate deficiency

V. Ramaekers, Nenad Blau · Developmental Medicine & Child Neurology · 2004 · 199 citations · Full text

Medicine, Neurology, Pediatrics +17

Cerebral folate deficiency

V. Ramaekers, Nenad Blau · Developmental Medicine & Child Neurology · 2004 · 193 citations

Medicine, Neurology, Pediatrics +17