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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)
Stenton, S. et al.: The genetic landscape of mitochondrial disease: A study of 1116 exomes. Eur. J. Hum. Genet. 27, 816-817 (2019)
Tilch, E. et al.: Explaining RLS families using risk SNPs from GWAS. Eur. J. Hum. Genet. 27, 658-659 (2019)
Van Bergen, N.J.* et al.: NAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses. Eur. J. Hum. Genet. 27, 751-752 (2019)
van Setten, J.* et al.: Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. Eur. J. Hum. Genet. 27, 952-962 (2019)
Vasileiou, G.* et al.: Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome. Eur. J. Hum. Genet. 27, 805-806 (2019)
Verheije, R.* et al.: Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. Eur. J. Hum. Genet. 27, 278-290 (2019)
Vidali, S.* et al.: A homozygous two exon deletion in UQCRH: Matching mouse and human phenotype. Eur. J. Hum. Genet. 27, 818-819 (2019)
Puusepp, S.* et al.: Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. Eur. J. Hum. Genet. 26, 407-419 (2018)
Chen, G.B.* et al.: Across-cohort QC analyses of GWAS summary statistics from complex traits. Eur. J. Hum. Genet. 25, 137-146 (2017)
Herebian, D.* et al.: Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. Eur. J. Hum. Genet. 25, 1092-1095 (2017)
Kuechler, A.* et al.: Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: A recognizable condition. Eur. J. Hum. Genet. 25, 183-191 (2017)
Redler, S.* et al.: Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur. J. Hum. Genet. 25, 889-893 (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)
Amin, N.* et al.: Genetic variants in RBFOX3 are associated with sleep latency. Eur. J. Hum. Genet. 24, 1488-1495 (2016)
Danhauser, K.* et al.: Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. Eur. J. Hum. Genet. 24, 450-454 (2016)
Mayer, A.K.* et al.: Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. Eur. J. Hum. Genet. 24, 459-462 (2016)
Schäfgen, J.* et al.: De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. Eur. J. Hum. Genet. 24, 1739-1745 (2016)
Seco, C.Z.* et al.: Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. Eur. J. Hum. Genet. 24, 542-549 (2016)
Srivastava, S.* et al.: Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur. J. Hum. Genet. 24, 556-561 (2016)