List of works - Machteld M Oud - Paulina

List of works by Machteld M Oud

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

scientific journal article

Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis

scientific article published on 23 February 2018

CiliaCarta: An integrated and validated compendium of ciliary genes

scientific article published on 16 May 2019

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

scientific article

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

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