Escalante-Reyes M et al.
Molecular Syndromology, 2025
Schütz K et al.
Pediatric Pulmonology, 2023
Bzdega K et al.
Peerj, 2022
Ghadie M et al.
Nature Communications, 2019
Seymen F et al.
Clinical Oral Investigations, 2017
Mikolajczak M et al.
The Biochemical Journal, 2016
Puk O et al.
Investigative Ophthalmology & Visual Science, 2009
Krejci P et al.
Human Mutation, 2009
Chapman DB et al.
International Journal of Pediatric Otorhinolaryngology, 2009
Scheckenbach K et al.
Bmc Medical Genetics, 2008
Krüger V et al.
Pediatric Surgery International, 2008
Entesarian M et al.
European Journal of Human Genetics : Ejhg, 2007