Saskia N van der Crabben

2PUBLICATIONS
5CO-AUTHORS
Infant and child healthGene mapping
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Publications (2)

|Feb 26, 2022
A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.

Ingeborg Hauth, Hans R Waterham, Ronald J A Wanders

|Jun 08, 2018
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.

Idske C L Kremer Hovinga, Jacques C Giltay, Saskia N van der Crabben

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