Rosalina van Spaendonk

Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

Reinhard Kalb, Kornelia Neveling, Holger Hoehn et al. · The American Journal of Human Genetics · 2007 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

High-resolution mapping of molecular events associated with immortalization, transformation, and progression to breast cancer in the MCF10 model

Maria J. Worsham, Gerard Pals, Jan P. Schouten et al. · Breast Cancer Research and Treatment · 2005 · 89 citations

Medicine, Cell Biology, Molecular Biology +15

Diffuse hypomyelination is not obligate for POLR3-related disorders

Roberta La Piana, Ferdy Kurniawan Cayami, Luan T. Tran et al. · Neurology · 2016 · 76 citations · Full text

Medicine, Neurology, Neuroscience +16

Melanocortin‐4 Receptor Gene Mutations in a Dutch Cohort of Obese Children

Linda van den Berg, Olivier van Beekum, Peter Heutink et al. · Obesity · 2010 · 28 citations

Life Sciences, Genetics, Molecular Genetics +13

The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series

Hülya Uluğut Erkoyun, Sven J. van der Lee, Bas Nijmeijer et al. · Journal of Alzheimer s Disease · 2021 · 26 citations · Full text

Life Sciences, Genetics, Neurology +17