H. Büttel

Paternally Inherited IGF2 Mutation and Growth Restriction.

W. van Workum, T. Eggermann, G. Binder, 2015, The New England journal of medicine.

Menkes disease with discordant phenotype in female monozygotic twins

S. Kaler, B. Zirn, E. Rossier, 2015, American journal of medical genetics. Part A.

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

A. Leha, H. Omran, D. Mitter, 2019, Annals of clinical and translational neurology.

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017, Genetics in Medicine.

FOXG 1 syndrome : genotype – phenotype association in 83 patients with FOXG 1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017 .

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

E. Valente, J. Seeger, E. Boltshauser, 2023, Orphanet Journal of Rare Diseases.

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

J. Seeger, E. Boltshauser, K. Brockmann, 2016, Orphanet Journal of Rare Diseases.