Dana Timbolschi

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.

H. Dollfus, N. Calmels, D. Astruc, 2020, European journal of medical genetics.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

J. Mandel, A. Verloes, A. Boland, 2018, European Journal of Human Genetics.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

J. Mandel, A. Verloes, A. Boland, 2018, European Journal of Human Genetics.

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

R. Favre, P. Kehrli, H. Dollfus, 2014, Fetal Diagnosis and Therapy.