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1.
Braunisch, M.C.* et al.: Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS. Eur. J. Hum. Genet. 29, 262–270 (2021)
2.
Appelhof, B.* et al.: Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur. J. Hum. Genet., DOI: 10.1038/s41431-020-00749-x (2020)
3.
Alston, C.L.* et al.: Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. Eur. J. Hum. Genet. 27, 182-183 (2019)
4.
Alston, C.L.* et al.: Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. Eur. J. Hum. Genet. 27, 861-861 (2019)
5.
Beygo, J.* ; Bürger, J.* ; Strom, T.M. ; Kaya, S.* & Buiting, K.*: Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment. Eur. J. Hum. Genet. 27, 903-908 (2019)
6.
Gusic, M. et al.: Recessive mutations in UQCRFS1, encoding the Rieske iron-sulfur protein, are associated with mitochondrial complex III deficiency, lactic acidosis and cardiomyopathy. Eur. J. Hum. Genet. 27, 186-186 (2019)
7.
Iuso, A. et al.: Mutationsin phosphopantothenoylcysteine synthetase (PPCS) cause dilated cardiomyopathy. Eur. J. Hum. Genet. 27, 819-819 (2019)
8.
Kuechler, A.* et al.: De novo FBXO11 mutations are associated with intellectual disability, microcephaly and behavioural anomalies. Eur. J. Hum. Genet. 27, 228-229 (2019)
9.
Marlin, S.* et al.: PRPS1loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy. Eur. J. Hum. Genet. 27, 1239-1239 (2019)
10.
Mertes, C.* et al.: When the outlier is the signal: Denoising autoencoders to pinpoint causes of rare diseases from RNA-seq data. Eur. J. Hum. Genet. 27, 1711-1712 (2019)
11.
Oplopoiou, M.* et al.: The role of Trp53 in chemical-induced lung adenocarcinoma. Eur. J. Hum. Genet. 27, 470-471 (2019)
12.
Parenti, I.* et al.: Novel gene and pathomechanism in Cornelia de Lange syndrome. Eur. J. Hum. Genet. 27, 830-831 (2019)
13.
Piekutowska-Abramczuk, D.* et al.: Novel FDXR pathogenic variants expand the clinical spectrum related to human ferredoxin reductase defects. Eur. J. Hum. Genet. 27, 172-173 (2019)
14.
Pollazzon, M.* et al.: Patient with a novel variant in CREBBP exon 31 and without a typical Rubinstein-Taybi phenotype. Eur. J. Hum. Genet. 27, 354-354 (2019)
15.
Riedhammer, K.M.* et al.: Exome sequencing identifies phenocopies in every fifth solved case in a cohort of 174 patients with hereditary nephropathies. Eur. J. Hum. Genet. 27, 1145-1146 (2019)
16.
Sorg, T.* et al.: Generation of the Cancer Pathway Prototype - a platform for predictive cancer pathway modeling. Eur. J. Hum. Genet. 27, 571-572 (2019)
17.
Stalke, A.* et al.: Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export. Eur. J. Hum. Genet. 27, 879-887 (2019)
18.
Stenton, S. et al.: The genetic landscape of mitochondrial disease: A study of 1116 exomes. Eur. J. Hum. Genet. 27, 816-817 (2019)
19.
Tilch, E. et al.: Explaining RLS families using risk SNPs from GWAS. Eur. J. Hum. Genet. 27, 658-659 (2019)
20.
Van Bergen, N.J.* et al.: NAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses. Eur. J. Hum. Genet. 27, 751-752 (2019)