Mariet W. Elting

PPIB Mutations Cause Severe Osteogenesis Imperfecta

Fleur S. van Dijk, I. M. Nesbitt, Eline H. Zwikstra et al. · The American Journal of Human Genetics · 2009 · 296 citations · Full text

Bone Disease, Genetics, Osteoarthritis +6

Prevalence of diabetes mellitus, hypertension and cardiac complaints in a follow-up study of a Dutch PCOS population

Mariet W. Elting, T. Korsen, P.D. Bezemer et al. · Human Reproduction · 2001 · 252 citations · Full text

Women with polycystic ovary syndrome gain regular menstrual cycles when ageing

Mariet W. Elting, T. Korsen, L.T.M. Rekers-Mombarg et al. · Human Reproduction · 2000 · 227 citations

Hormonal Contraceptive, Fertility, Oral Contraceptive +18

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta, Luca Pannone, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2020 · 94 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Genetic Disorder +10