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List of works by Karlien Coene

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

scientific journal article
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

scientific article
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

scientific article
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

scientific article published on 17 June 2011
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

scientific article
CAD mutations and uridine-responsive epileptic encephalopathy.

scientific article published on 21 December 2016
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

scientific article published on 16 February 2018
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.

scientific article
Subclinical hypothyroidism: a 'laboratory-induced' condition?

scientific article published on 28 July 2015
Iatrogenic anemia/Twenty-five million liters of blood into the sewer: comment

scientific article published on 13 April 2015
Protocolled Redefinition of the Therapeutic Range for Unfractionated Heparin: Lost in Translation?

scientific article
The lebercilin-like protein is embedded in a ciliary protein network and is preferentially expressed in motile cilia.

scientific article published on 16 November 2012
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

scientific article published on 02 July 2020
Practical Value of Anti-Xa Activity in the Evaluation of Extracorporeal Circuit Anticoagulation during Haemodialysis: Results of a Cross-Sectional Single-Centre Study

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