Alma Kuechler

Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

J. Mulliken, M. Vikkula, F. Forzano, 2013, Molecular Syndromology.

Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome

F. Baertling, E. Tschiedel, L. D. Schlieben, 2024, Frontiers in pediatrics.