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List of works by Karlien Coene

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

scientific journal article

CAD mutations and uridine-responsive epileptic encephalopathy.

scientific article published on 21 December 2016

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

scientific article

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

scientific article

Iatrogenic anemia/Twenty-five million liters of blood into the sewer: comment

scientific article published on 13 April 2015

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

scientific article

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

Practical Value of Anti-Xa Activity in the Evaluation of Extracorporeal Circuit Anticoagulation during Haemodialysis: Results of a Cross-Sectional Single-Centre Study

Protocolled Redefinition of the Therapeutic Range for Unfractionated Heparin: Lost in Translation?

scientific article

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

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

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

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