Skeletal malformations and polycystic kidney disease

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

European journal of medical genetics·2006

Kohlschutter syndrome in siblings.

Clinical dysmorphology·2005

Diagnosis in dysmorphology: clues from the skin.

The British journal of dermatology·2004

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

American journal of medical genetics. Part A·2004

Familial syndromic duodenal atresia: Feingold syndrome.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie·2004