Joke de Pater
Leiden University Medical Center(NL)Erasmus MC(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Prenatal Screening and Diagnostics, Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases
Most-Cited Works
- → The 11q;22q translocation: A European collaborative analysis of 43 cases(1980)201 cited
- → Interstitial deletion of 6q without phenotypic effect(2007)20 cited
- → At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.(1997)16 cited
- A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation.(1991)
- → Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH(2006)10 cited
- A male carrier for Duchenne muscular dystrophy.(1989)