Renate Zeevaert

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

François Foulquier, Mustapha Amyere, Jaak Jaeken et al. · The American Journal of Human Genetics · 2012 · 206 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation

François Foulquier, Dániel Ungár, Ellen Reynders et al. · Human Molecular Genetics · 2007 · 123 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

Éva Morava, Renate Zeevaert, Eckhard Korsch et al. · European Journal of Human Genetics · 2007 · 103 citations

Medicine, Genetics, Molecular Genetics +12

Evaluation of the FreeStyle® Libre Flash Glucose Monitoring System in Children and Adolescents with Type 1 Diabetes

Guy Massa, Inge Gys, Anniek Op ‘t Eyndt et al. · Hormone Research in Paediatrics · 2018 · 72 citations

Medicine, Endocrinology, Pediatrics +17

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165

Renate Zeevaert, Francis de Zegher, Luisa Sturiale et al. · JIMD Reports · 2012 · 52 citations

Medicine, Genetics, Molecular Genetics +17