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- 2017
- The novel homozygous KCNJ10 c.986T > C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs
- 2016
- FOXP1-related intellectual disability syndrome : a recognizable entity
- Congenital contractural arachnodactyly : delineation of clinical criteria
- A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever
- Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues
- Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
- 2015
- Whole exome sequencing as a novel tool for the detection of modifier genes in pseudoxanthoma elasticum
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
- Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
- Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability