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Pilz, R.A.* et al.: Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations. J. Neurol. Sci. 401, 34-36 (2019)
Rath, M.* et al.: Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. Am. J. Med. Genet. A 179, 295-299 (2019)
Jensen, L.R.* et al.: A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene. Biochim. Biophys. Acta-Mol. Basis Dis., accepted (2018)
Spiegler, S.* et al.: First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. Neurogenetics 19, 55–59 (2018)
Rath, M.* et al.: Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease. J. Neurol. Sci. 379, 296-297 (2017)
Schulz, N.* et al.: Role of medium- and short-chain L-3-hydroxyacyl-CoA dehydrogenase in the regulation of body weight and thermogenesis. Endocrinology 152, 4641-4651 (2011)