JB
Publications
4
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Title Published in Access level OA Policy Year Views Downloads
Experience of a multidisciplinary task force with exome sequencing for Mendelian disordersHuman genomics
accessLevelPublic
2016 704 242
Next generation diagnostics on cardiomyopathyMolecular cytogenetics
accessLevelPublic
2014 643 184
Multiplex targeted high-throughput sequencing for Mendelian cardiac disordersClinical genetics
accessLevelRestricted
2014 688 0
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary DyskinesiaAmerican journal of human genetics
accessLevelRestricted
2013 515 0
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