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41.
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)
42.
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)
43.
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)
44.
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)
45.
Amin, N.* et al.: Genetic variants in RBFOX3 are associated with sleep latency. Eur. J. Hum. Genet. 24, 1488-1495 (2016)
46.
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)
47.
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)
48.
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)
49.
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)
50.
Srivastava, S.* et al.: Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur. J. Hum. Genet. 24, 556-561 (2016)
51.
Brænne, I.* et al.: Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. Eur. J. Hum. Genet. 24, 191-197 (2015)
52.
Cheng, T.H.* et al.: Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP. Eur. J. Hum. Genet. 23, 260-263 (2015)
53.
Collet, M.* et al.: High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. Eur. J. Hum. Genet., DOI: 10.1038/ejhg.2015.264 (2015)
54.
Dondorp, W.* et al.: Non-invasive prenatal testing for aneuploidy and beyond: Challenges of responsible innovation in prenatal screening. Eur. J. Hum. Genet. 23, 1438-1450 (2015)
55.
Dondorp, W.* et al.: Non-invasive prenatal testing for aneuploidy and beyond: Challenges of responsible innovation in prenatal screening. Summary and recommendations. Eur. J. Hum. Genet., DOI: 10.1038/ejhg.2015.56 (2015)
56.
Oláhová, M.* et al.: A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. Eur. J. Hum. Genet. 23, 935-939 (2015)
57.
Schulte, E.C. et al.: Rare variants in β-Amyloid Precursor Protein (APP) and Parkinson's disease. Eur. J. Hum. Genet. 23, 1328-1333 (2015)
58.
Spjuth, O.* et al.: Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research. Eur. J. Hum. Genet. 24, 521-528 (2015)
59.
Budin-Ljosne, I.* et al.: Data sharing in large research consortia: Experiences and recommendations from ENGAGE. Eur. J. Hum. Genet. 22, 317-321 (2014)
60.
Huckins, L.M.* et al.: Using ancestry-informative markers to identify fine structure across 15 populations of European origin. Eur. J. Hum. Genet. 22, 1190-1200 (2014)
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