Conny van Ravenswaaij

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Bregje W.M. van Bon, Heather C. Mefford, Björn Menten et al. · Journal of Medical Genetics · 2009 · 366 citations · Full text

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 171 citations · Full text

Neurological Disorder, Clinical Neurology, Baraitser–winter Cerebrofrontofacial Syndrome +3

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

María Clara Bonaglia, Roberto Ciccone, Giorgio Gimelli et al. · European Journal of Human Genetics · 2008 · 146 citations · Full text

Genetic Disorder, Genetics, Clinical Genetics +8

Growth charts for Wolf-Hirschhorn syndrome (0–4 years of age)

T. A. J. Antonius, Jos Draaisma, Elena Levtchenko et al. · European Journal of Pediatrics · 2007 · 30 citations · Full text

Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene

Anita Bonné, Lilian Vreede, Roland P. Kuiper et al. · Cancer Genetics and Cytogenetics · 2007 · 28 citations

Urology, Constitutional Translocation Breakpoints, Genitourinary Cancer +9