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Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
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More than meets the eye in Brittle Cornea Syndrome : genotype-phenotype studies on novel and reported pathogenic variants in ZNF469 and PRDM5
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Tracking the origins of metastatic seeding in de novo metastatic prostate cancer
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First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
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Atm deficient zebrafish model reveals conservation of the tumour suppressor function
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Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome
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Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
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Delineating Ehlers-Danlos syndrome, the classical subtype : molecular and clinical characteristics of a large patient cohort.