PuSH - Publication Server of Helmholtz Zentrum München

15 Records found.
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1.
Feichtinger, R.G.* et al.: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet. Med., accepted (2019)
2.
Mahler, E.A.* et al.: Exome sequencing in children undiagnosed developmental delay and neurological illness. Dtsch. Arztebl. Int. 116, 197-204 (2019)
3.
Fritzen, D.* et al.: De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. Hum. Genet. 137, 401-411 (2018)
4.
Iuso, A. et al.: A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy. JIMD Rep., accepted (2018)
5.
Krenn, M.* et al.: Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: Expanding the genotype-phenotype spectrum. J. Neurol. 265, 394–401 (2018)
6.
Milev, M.P.* et al.: Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J. Med. Genet. 55, 753-764 (2018)
7.
O'Byrne, J.J.* et al.: The genotypic and phenotypic spectrum of MTO1 deficiency. Mol. Genet. Metab. 123, 28-42 (2018)
8.
Repp, B. et al.: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? Orphanet J. Rare Dis. 13:120 (2018)
9.
van Karnebeek, C.D.M.* et al.: The role of the clinician in the multi-omics era: Are you ready? J. Inherit. Metab. Dis. 41, 571-582 (2018)
10.
Bublitz, S.K.* et al.: Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration. Clin. Genet. 92, 561-562 (2017)
11.
Eriksson, O.* et al.: First-in-class PET tracer for the glucagon receptor. Diabetologia 60, S400-S400 (2017)
12.
Glasgow, R.I.C.* et al.: Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics 18, 1-9 (2017)
13.
Krenn, M.* et al.: Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. Eur. J. Neurol. 24, 741-747 (2017)
14.
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
15.
Umair, M.* et al.: Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3. Pediatr. Res. 82, 753-758 (2017)