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Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.
de Klein N, Tsai EA, Vochteloo M, Baird D, Huang Y, Chen CY, van Dam S, Oelen R, Deelen P, Bakker OB, El Garwany O, Ouyang Z, Marshall EE, Zavodszky MI, van Rheenen W, Bakker MK, Veldink J, Gaunt TR, Runz H, Franke L, Westra HJ. de Klein N, et al. Among authors: runz h. Nat Genet. 2023 Mar;55(3):377-388. doi: 10.1038/s41588-023-01300-6. Epub 2023 Feb 23. Nat Genet. 2023. PMID: 36823318 Free PMC article.
Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4.
Ellinghaus D, Folseraas T, Holm K, Ellinghaus E, Melum E, Balschun T, Laerdahl JK, Shiryaev A, Gotthardt DN, Weismüller TJ, Schramm C, Wittig M, Bergquist A, Björnsson E, Marschall HU, Vatn M, Teufel A, Rust C, Gieger C, Wichmann HE, Runz H, Sterneck M, Rupp C, Braun F, Weersma RK, Wijmenga C, Ponsioen CY, Mathew CG, Rutgeerts P, Vermeire S, Schrumpf E, Hov JR, Manns MP, Boberg KM, Schreiber S, Franke A, Karlsen TH. Ellinghaus D, et al. Among authors: runz h. Hepatology. 2013 Sep;58(3):1074-83. doi: 10.1002/hep.25977. Epub 2013 Jan 17. Hepatology. 2013. PMID: 22821403
Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.
Blake J, Riddell A, Theiss S, Gonzalez AP, Haase B, Jauch A, Janssen JW, Ibberson D, Pavlinic D, Moog U, Benes V, Runz H. Blake J, et al. Among authors: runz h. PLoS One. 2014 Mar 13;9(3):e90894. doi: 10.1371/journal.pone.0090894. eCollection 2014. PLoS One. 2014. PMID: 24625750 Free PMC article.
Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis.
Surmeli-Onay O, Yakarisik S, Korkmaz A, Akcoren Z, Yuce A, Runz H, Stampfer M, Yurdakok M. Surmeli-Onay O, et al. Among authors: runz h. Pediatr Neonatol. 2013 Oct;54(5):344-7. doi: 10.1016/j.pedneo.2013.01.015. Epub 2013 Mar 11. Pediatr Neonatol. 2013. PMID: 23597521 Free article.
Identification of cholesterol-regulating genes by targeted RNAi screening.
Bartz F, Kern L, Erz D, Zhu M, Gilbert D, Meinhof T, Wirkner U, Erfle H, Muckenthaler M, Pepperkok R, Runz H. Bartz F, et al. Among authors: runz h. Cell Metab. 2009 Jul;10(1):63-75. doi: 10.1016/j.cmet.2009.05.009. Cell Metab. 2009. PMID: 19583955 Free article.
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E. Herzog A, et al. Among authors: runz h. Orphanet J Rare Dis. 2012 Jun 7;7:35. doi: 10.1186/1750-1172-7-35. Orphanet J Rare Dis. 2012. PMID: 22676651 Free PMC article.
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.
Speak AO, Platt N, Salio M, te Vruchte D, Smith DA, Shepherd D, Veerapen N, Besra GS, Yanjanin NM, Simmons L, Imrie J, Wraith JE, Lachmann RH, Hartung R, Runz H, Mengel E, Beck M, Hendriksz CJ, Porter FD, Cerundolo V, Platt FM. Speak AO, et al. Among authors: runz h. Eur J Immunol. 2012 Jul;42(7):1886-92. doi: 10.1002/eji.201141821. Epub 2012 Jun 14. Eur J Immunol. 2012. PMID: 22585405 Free PMC article.
112 results