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Scala, M.* et al.: Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum. Mutat. 43, 403-419 (2022)
Itai, T.* et al.: De novo variants in CELF2  that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Hum. Mutat. 42, 66-76 (2021)
Neuser, S.* et al.: Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum. Mutat. 42, 762-776 (2021)
Stenton, S. et al.: Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Hum. Mutat. 42, 310-319 (2021)
Torraco, A.* et al.: Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Hum. Mutat. 42, 699-710 (2021)
Ascari, G.* et al.: Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. Hum. Mutat. 41, 998-1011 (2020)
Saoura, M.* et al.: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3 '-end processing. Hum. Mutat. 40, 1731-1748 (2019)
Suleiman, J.* et al.: Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. Hum. Mutat. 40, 1985-1992 (2019)
Bruni, F.* et al.: Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum. Mutat. 39, 563-578 (2018)
El-Hattab, A.W.* et al.: Molecular and clinical spectra of FBXL4 deficiency. Hum. Mutat. 38, 1649-1659 (2017)
Kreimer, A.* et al.: Predicting gene expression in massively parallel reporter assays: A comparative study. Hum. Mutat. 38, 1240-1250 (2017)
Wambach, J.A.* et al.: Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum. Mutat. 38, 1477-1484 (2017)
Wortmann, S.B. et al.: Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Hum. Mutat. 38, 1786-1795 (2017)
Bögershausen, N.* et al.: Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Hum. Mutat. 37, 847-864 (2016)
Diodato, D.* et al.: VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum. Mutat. 35, 983-989 (2014)
Baruffini, E.* et al.: MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum. Mutat. 34, 1501-1509 (2013)
Parzefall, T.* et al.: Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. Hum. Mutat. 34, 1102-1110 (2013)
Horn, D.* et al.: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum. Mutat. 31, E1851-E1860 (2010)
Molatore, S. et al.: A novel germline CDKN1B mutation causing multiple endocrine tumors: Clinical, genetic and functional characterization. Hum. Mutat. 31, E1825-E1835 (2010)
Fritsche, L.G.* et al.: Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene. Hum. Mutat. 30, 1048-1053 (2009)