J. Loeffler

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.

G. Utermann, M. Nezarati, G. Graham, 2002, American journal of medical genetics.

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

G. Utermann, A. Janecke, H. Duba, 2003, American journal of medical genetics. Part A.

Molecular prenatal diagnosis of Smith–Lemli–Opitz syndrome is reliable and efficient

G. Utermann, M. Witsch-Baumgartner, J. Loeffler, 2002, Prenatal diagnosis.

Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder.

C. Neuhaus, G. Utermann, M. Witsch-Baumgartner, 2001, American journal of medical genetics.