Franziska Schnabel

Years Active: 2018-2023
Publications (10 Years): 4

This page only lists publications with an associated author ORCID identifier.

Publications

Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmüller, Peter Nürnberg, Siddharth Banka, Katta M Girisha, Yun Li, Bernd Wollnik, Gökhan Yigit
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. Human genetics (2023)
Franziska Schnabel, Uwe Kornak, Bernd Wollnik
Premature aging disorders: A clinical and genetic compendium. Clinical genetics 99 (1) (2020)
Franziska Schnabel, Susanne B Kamphausen, Rudolf Funke, Silke Kaulfuß, Bernd Wollnik, Martin Zenker
Aplasia cutis congenita in a CDC42-related developmental phenotype. American journal of medical genetics. Part A 185 (3) (2020)
Franziska Schnabel, Mateja Smogavec, Rudolf Funke, Silke Pauli, Peter Burfeind, Iris Bartels
Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22. Molecular cytogenetics 11 (2018)

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