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Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics
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The novel homozygous KCNJ10 c.986T > C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs
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FOXP1-related intellectual disability syndrome : a recognizable entity
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues
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A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever
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Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
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Redefining the MED13L syndrome
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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
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Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability