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Authors
- Besselink, Nicolle
- Bos, Jeroen W
- Boymans, Sander
- Créton, Marijn
- Cuppen, Edwin
- Giachino, Daniela
- Giltay, Jacques
- Hochstenbach, Ron
- Janssen, Roel
- Kloosterman, Wigard P
- Knoers, Nine
- Korzelius, Jerome
- Middelkamp, Sjors
- Nievelstein, Rutger A J
- Nikkels, Peter G J
- Ross, Jamila
- Talkowski, Michael E
- Terhal, Paulien A
- Vlaar, Judith M
- Voskuil-Kerkhof, Elsbeth S M
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Topics
- Adult
- Anodontia
- Computational Biology
- DNA Copy Number Variations
- Female
- Genetic Association Studies
- Genetic Diseases, Inborn
- Genetic Predisposition to Disease
- Genetic Variation
- Genome, Human
- Genomic Structural Variation
- Humans
- Loss of Function Mutation
- Molecular Sequence Annotation
- Osteochondrodysplasias
- Phenotype
- RNA Polymerase III
- RNA Splicing
- Syndrome
- Whole Genome Sequencing
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