Hoefsloot, Lies H.
Radboud University Nijmegen · Radboud University Medical Center
3 papers on CoChatORCID 0009-0000-3444-9955
Most cited papers
- Verified
L1 retrotransposition can occur early in human embryonic development
van den Hurk, J. A. J. M., Meij, I. C., del Carmen Seleme, M., Kano, H., Nikopoulos, K., Hoefsloot, L. H., Sistermans, E. A., de Wijs, I. J., Mukhopadhyay, A., Plomp, A. S., et al. (2007) · Human Molecular Genetics
Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities
Cited by 193
- Verified
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations
Stikkelbroeck, N. M. M. L., Hoefsloot, L. H., de Wijs, I. J., Otten, B. J., Hermus, A. R. M. M., & Sistermans, E. A. (2003) · The Journal of Clinical Endocrinology & Metabolism
Sexual Differentiation and DisordersAdrenal Hormones and Disorders
Cited by 171
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CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome
Batsukh, T., Pieper, L., Koszucka, A. M., von Velsen, N., Hoyer-Fender, S., Elbracht, M., Bergman, J. E. H., Hoefsloot, L. H., & Pauli, S. (2010) · Human Molecular Genetics
Congenital Ear and Nasal AnomaliesGenomics and Rare Diseases
Cited by 95
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