Thomas M Kitzler

Publication Activity (10 Years)

Years Active: 2024-2024
Publications (10 Years): 2

Top Topics

Oxidative Stress

Binding Protein

Top Venues

European journal of human genetics : EJHG

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

Publications

Zachary T Sentell, Zachary W Nurcombe, Lina Mougharbel, Natascia Anastasio, Jean-Baptiste Rivière, Sima Babayeva, Paul R Goodyer, Elena Torban, Thomas M Kitzler
Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis. European journal of human genetics : EJHG 32 (9) (2024)
Zachary T Sentell, Zachary W Nurcombe, Lina Mougharbel, Natascia Anastasio, Jean-Baptiste Rivière, Sima Babayeva, Paul R Goodyer, Elena Torban, Thomas M Kitzler
Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis. European journal of human genetics : EJHG (2024)