C. B. van der Hagen

Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1

Niels Tommerup, W. Schempp, Peter Meinecke et al. · Nature Genetics · 1993 · 194 citations

Life Sciences, Genetics, Molecular Genetics +12

Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q

Laura N. Bull, Erin Roche, Eyun J. Song et al. · The American Journal of Human Genetics · 2000 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

M.H. Breuning, Hans G. Dauwerse, G Fugazza et al. · PubMed · 1993 · 122 citations

Medicine, Molecular Medicine, Pathology +4

Hereditary recurrent intrahepatic cholestasis from birth.

Ö Aagenaes, C. B. van der Hagen, SigvaldB. Refsum · Archives of Disease in Childhood · 1968 · 89 citations · Full text

Medicine, Genetics, Pediatrics +12

Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.

N McFadden, J Hagelsteen, Eli Ormerod et al. · Journal of Medical Genetics · 1994 · 46 citations · Full text

Life Sciences, Genetics, Pediatrics +17