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5 Records found.
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1.
Baumann, M.* et al.: MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clin. Genet. 95, 182-186 (2018)
2.
Shashi, V.* et al.: Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J., accepted (2018)
3.
Wiessner, M.* et al.: Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment. Am. J. Hum. Genet. 100, 523-536 (2017)
4.
Chen, Y.-C.* et al.: Transcriptional regulator PRDM12 is essential for human pain perception. Nat. Genet. 47, 803-808 (2015)
5.
Chen, Y.-C.* et al.: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nat. Genet. 47, 962 (2015)