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Danhauser, K. et al.: Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axaonal neuropathy. Am. J. Hum. Genet. 103, 817-825 (2018)
Thiel, C.* et al.: Severe ichthyosis in MPDU1-CDG. J. Inherit. Metab. Dis. 41, 1293-1294 (2018)
El-Hattab, A.W.* et al.: Molecular and clinical spectra of FBXL4 deficiency. Hum. Mutat. 38, 1649-1659 (2017)
Rokicki, D.* et al.: 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Clin. Chim. Acta 471, 95-100 (2017)
Ullah, A.* et al.: Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. Mol. Vis. 23, 482-494 (2017)
Umair, M.* et al.: Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. Eur. J. Hum. Genet. 25, 960-965 (2017)
Umair, M. et al.: Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes. J. Genet. 96, 1005-1014 (2017)
Vill, K.* et al.: Early-onset myopathies: Clinical findings, prevalence of subgroups and diagnostic approach in a single neuromuscular referral center in Germany. J. Neuromuscul. Dis. 4, 315-325 (2017)
Danhauser, K.* et al.: EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum. Metab. Brain Dis. 31, 717-721 (2016)
Kennedy, H.* et al.: Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2. Am. J. Hum. Genet. 99, 674-682 (2016)
Kremer, L.S. et al.: Biallelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy. Am. J. Hum. Genet. 98, 358-362 (2016)
Hempel, M.* et al.: De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment. Am. J. Hum. Genet. 97, 493-500 (2015)