Tuula Rinne
0000-0003-4350-8106
4 papers found
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The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
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