Lonneke de Boer

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

Arjan P.M. de Brouwer, Rami Abou Jamra, Nadine Körtel et al. · The American Journal of Human Genetics · 2018 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Depressive behaviour in children diagnosed with a mitochondrial disorder

Éva Morava, Thatjana Gardeitchik, Tamás Kozicz et al. · Mitochondrion · 2010 · 78 citations

Medicine, Pediatrics, Psychiatry +14

Increased Levels and Pulsatility of Follicle-Stimulating Hormone in Mothers of Hereditary Dizygotic Twins¹

Cornelis B. Lambalk, Dorret I. Boomsma, Lonneke de Boer et al. · The Journal of Clinical Endocrinology & Metabolism · 1998 · 53 citations · Full text

Medicine, Endocrinology, Hormone Biochemistry +12

Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome

Lonneke de Boer, Sarina G. Kant, Marcel Karperien et al. · Hormone Research in Paediatrics · 2004 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Marisa I. Mendes, Desirée E.C. Smith, Ana Pop et al. · Human Mutation · 2017 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16