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Direct prediction of Homologous Recombination Deficiency from routine histology in ten different tumor types with attention-based Multiple Instance Learning: a development and validation study.
medRxiv [Preprint]. 2023 Mar 10:2023.03.08.23286975. doi: 10.1101/2023.03.08.23286975.
medRxiv. 2023.
PMID: 36945540
Free PMC article.
Preprint.
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
Bruechle NO, Steuernagel P, Zerres K, Kurth I, Eggermann T, Knopp C.
Bruechle NO, et al.
Pediatr Nephrol. 2017 Oct;32(10):1989-1992. doi: 10.1007/s00467-017-3710-8. Epub 2017 Jun 15.
Pediatr Nephrol. 2017.
PMID: 28620746
Review.
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Rationale, design and objectives of ARegPKD, a European ARPKD registry study.
Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC; ESCAPE Study Group; GPN Study Group.
Ebner K, et al.
BMC Nephrol. 2015 Feb 18;16:22. doi: 10.1186/s12882-015-0002-z.
BMC Nephrol. 2015.
PMID: 25886171
Free PMC article.
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DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F.
Schueler M, et al. Among authors: bruechle no.
Am J Hum Genet. 2015 Jan 8;96(1):81-92. doi: 10.1016/j.ajhg.2014.12.002. Epub 2014 Dec 31.
Am J Hum Genet. 2015.
PMID: 25557784
Free PMC article.
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Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Morin G, Bruechle NO, Singh AR, Knopp C, Jedraszak G, Elbracht M, Brémond-Gignac D, Hartmann K, Sevestre H, Deutz P, Hérent D, Nürnberg P, Roméo B, Konrad K, Mathieu-Dramard M, Oldenburg J, Bourges-Petit E, Shen Y, Zerres K, Ouadid-Ahidouch H, Rochette J.
Morin G, et al. Among authors: bruechle no.
Hum Mutat. 2014 Oct;35(10):1221-32. doi: 10.1002/humu.22621.
Hum Mutat. 2014.
PMID: 25044882
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Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease.
Neumann HP, Malinoc A, Bacher J, Nabulsi Z, Ivanovas V, Bruechle NO, Mader I, Hoffmann MM, Riegler P, Kraemer-Guth A, Burchardi C, Schaeffner E, Martin RS, Azurmendi PJ, Zerres K, Jilg C, Eng C, Gläsker S.
Neumann HP, et al. Among authors: bruechle no.
Cerebrovasc Dis Extra. 2012 Jan;2(1):71-9. doi: 10.1159/000342620. Epub 2012 Oct 9.
Cerebrovasc Dis Extra. 2012.
PMID: 23139683
Free PMC article.
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