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- Journal Article
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- open access
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
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- Journal Article
- A1
- open access
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
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From collected stamps to hair locks : ethical and legal implications of testing DNA found on privately owned family artifacts
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A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
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- Journal Article
- A1
- open access
Challenges in translational machine learning
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MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects
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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
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Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
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Practical aspects of genome-wide association interaction analysis