Hannie Douben

Congenital Diaphragmatic Hernia and Chromosome 15q26: Determination of a Candidate Region by Use of Fluorescent In Situ Hybridization and Array-Based Comparative Genomic Hybridization

Merel Klaassens, Marieke van Dooren, H. J. Eussen et al. · The American Journal of Human Genetics · 2005 · 144 citations · Full text

Developmental Biology, Congenital Diaphragmatic Hernia, Cytogenetics +7

Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

Lars T. van der Veken, Marianne MJ Dieleman, Hannie Douben et al. · Molecular Cytogenetics · 2010 · 97 citations · Full text

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Anneke J.A. Kievit, Federico Tessadori, Hannie Douben et al. · European Journal of Human Genetics · 2018 · 69 citations · Full text

Signal Transduction, Cadherin–catenin Complex, Pathology +7

Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family

Simone Olgiati, Astrid Thomas, Marialuisa Quadri et al. · Parkinsonism & Related Disorders · 2015 · 62 citations · Full text

Alpha-synuclein Gene Triplication, Early-onset Parkinsonism, Mendelian Disorder +11

Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation

Celine de Esch, Mehrnaz Ghazvini, Friedemann Loos et al. · Stem Cell Reports · 2014 · 60 citations · Full text