Welcome at Erasmus MC Sophia

Prof. C.C.W. Klaver

The ophthalmogenetic consultations focus on the spectrum of inherited and congenital ophthalmologic disorders.

PI Pim Pijnappel, PhD

Lysosomal storage diseases are rare genetic disorders caused by a deficiency of metabolic enzymes. This results in accumulation of metabolic products ...

M. van der Schroeff, PhD

Although most apparent in later stages of life, it is probable that hearing acuity gradually declines with age and should therefore be studied at ...

B. Pullens, PhD

Acquired pediatric laryngotracheal stenosis (LTS) is a rare but life-threatening disease which usually occurs after a prolonged period of intubation.

Prof. A.T. van der Ploeg

Lysosomal and metabolic diseases are rare genetic disorders caused by metabolic enzyme deficiency.

LungAnalysis is an image analysis laboratory for clinical research and for the development of innovative image analysis techniques for clinical care.

Prof. S. Pasmans

Atopic dermatitis and Netherton syndrome might be systemic diseases like primary immunodeficiencies (PIDs).

P.F.A. de Nijs, PhD

We disentangle the autism spectrum phenotype using various diagnostic approaches, relate the core problems to frequent other problems, and explore ...

PI M.C. (Marie-Christine) Franken PhD

Stuttering is a developmental speech production disorder that starts in childhood at an early phase.

Prof. S. Pasmans

Children may be affected by a wide range of rare skin diseases, the care and cure of which are little known.

PI Prof. R.M.W. Hofstra

Which genetic factors determine the development of the gastrointestinal (GI) tract, and how do these genetic factors contribute to disease ...

Prof. S. Pasmans

We perform clinical research on vascular anomalies such as hemangioma, kaposiform hemangioendothelioma and capillary, venous, and lymphatic ...