Saskia N van der Crabben

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 2

Top Topics

Pseudomonas Aeruginosa

Top Venues

Clinical endocrinology

Cold Spring Harbor molecular case studies

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

Publications

Ingeborg Hauth, Hans R Waterham, Ronald J A Wanders, Saskia N van der Crabben, Clara D M van Karnebeek
A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification. Cold Spring Harbor molecular case studies 8 (2) (2022)
Idske C L Kremer Hovinga, Jacques C Giltay, Saskia N van der Crabben, Anja Steyls, Hetty J van der Kamp, Aimée D C Paulussen
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications. Clinical endocrinology 89 (3) (2018)