D. J. J. Halley
Erasmus MC(NL)Erasmus University Rotterdam(NL)
Publications by Year
Research Areas
Tuberous Sclerosis Complex Research, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Cystic Fibrosis Research Advances, Lysosomal Storage Disorders Research
Most-Cited Works
- → The fragile X syndrome.(1998)263 cited
- → High Rate of Mosaicism in Tuberous Sclerosis Complex(1999)200 cited
- → Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11(1994)162 cited
- → Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?(1997)115 cited
- → Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood(1999)108 cited
- → Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.(1993)93 cited
- → Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.