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39 Publications

2016 | Journal Article | IST-REx-ID: 1183 | OA
D.-C. Tarlungeanu et al., “Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder,” Cell, vol. 167, no. 6. Cell Press, pp. 1481–1494, 2016.
View | Files available | DOI
 
2015 | Journal Article | IST-REx-ID: 1497 | OA
D. Andergassen et al., “Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput sequencing data,” Nucleic Acids Research, vol. 43, no. 21. Oxford University Press, 2015.
View | Files available | DOI
 
2015 | Journal Article | IST-REx-ID: 1789 | OA
A. Kuechler et al., “Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome,” European Journal of Human Genetics, vol. 23, no. 6. Nature Publishing Group, pp. 753–760, 2015.
View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC
 
2014 | Journal Article | IST-REx-ID: 1916 | OA
G. Novarino et al., “Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders,” Science, vol. 343, no. 6170. American Association for the Advancement of Science, pp. 506–511, 2014.
View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC
 

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