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Year Number of Results
2010 2
2012 1
2013 3
2014 1
2015 1
2017 4
2018 6
2019 2
2020 4
2021 5
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25 results
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Page 1
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study, Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Bryant L, et al. Among authors: gunthner r. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
Cardiovascular Mortality Can Be Predicted by Heart Rate Turbulence in Hemodialysis Patients.
Braunisch MC, Mayer CC, Bauer A, Lorenz G, Haller B, Rizas KD, Hagmair S, von Stülpnagel L, Hamm W, Günthner R, Angermann S, Matschkal J, Kemmner S, Hasenau AL, Zöllinger I, Steubl D, Mann JF, Lehnert T, Scherf J, Braun JR, Moog P, Küchle C, Renders L, Malik M, Schmidt G, Wassertheurer S, Heemann U, Schmaderer C. Braunisch MC, et al. Among authors: gunthner r. Front Physiol. 2020 Feb 11;11:77. doi: 10.3389/fphys.2020.00077. eCollection 2020. Front Physiol. 2020. PMID: 32116784 Free PMC article.
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
Riedhammer KM, Braunisch MC, Günthner R, Wagner M, Hemmer C, Strom TM, Schmaderer C, Renders L, Tasic V, Gucev Z, Nushi-Stavileci V, Putnik J, Stajić N, Weidenbusch M, Uetz B, Montoya C, Strotmann P, Ponsel S, Lange-Sperandio B, Hoefele J. Riedhammer KM, et al. Among authors: gunthner r. Am J Kidney Dis. 2020 Oct;76(4):460-470. doi: 10.1053/j.ajkd.2019.12.008. Epub 2020 Apr 28. Am J Kidney Dis. 2020. PMID: 32359821
Impaired Retinal Vessel Dilation Predicts Mortality in End-Stage Renal Disease.
Günthner R, Hanssen H, Hauser C, Angermann S, Lorenz G, Kemmner S, Matschkal J, Braunisch MC, Kuechle C, Renders L, Moog P, Wassertheurer S, Baumann M, Hammes HP, Mayer CC, Haller B, Stryeck S, Madl T, Carbajo-Lozoya J, Heemann U, Kotliar K, Schmaderer C. Günthner R, et al. Circ Res. 2019 Apr 1. doi: 10.1161/CIRCRESAHA.118.314318. Online ahead of print. Circ Res. 2019. PMID: 30929571
Cognitive Impairment is Associated with Mortality in Hemodialysis Patients.
Angermann S, Schier J, Baumann M, Steubl D, Hauser C, Lorenz G, Günthner R, Braunisch MC, Kemmner S, Satanovskij R, Haller B, Heemann U, Lehnert T, Bieber R, Pachmann M, Braun J, Scherf J, Schätzle G, Fischereder M, Grimmer T, Schmaderer C. Angermann S, et al. Among authors: gunthner r. J Alzheimers Dis. 2018;66(4):1529-1537. doi: 10.3233/JAD-180767. J Alzheimers Dis. 2018. PMID: 30412499
Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis.
Braunisch MC, Büttner-Herold M, Günthner R, Satanovskij R, Riedhammer KM, Herr PM, Klein HG, Wahl D, Küchle C, Renders L, Heemann U, Schmaderer C, Hoefele J. Braunisch MC, et al. Among authors: gunthner r. Front Pediatr. 2018 Jun 12;6:171. doi: 10.3389/fped.2018.00171. eCollection 2018. Front Pediatr. 2018. PMID: 29946535 Free PMC article.
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.
Braunisch MC, Riedhammer KM, Herr PM, Draut S, Günthner R, Wagner M, Weidenbusch M, Lungu A, Alhaddad B, Renders L, Strom TM, Heemann U, Meitinger T, Schmaderer C, Hoefele J. Braunisch MC, et al. Among authors: gunthner r. Eur J Hum Genet. 2021 Feb;29(2):262-270. doi: 10.1038/s41431-020-00719-3. Epub 2020 Sep 4. Eur J Hum Genet. 2021. PMID: 32887937 Free PMC article.
Mortality prediction in stable hemodialysis patients is refined by YKL-40, a 40-kDa glycoprotein associated with inflammation.
Lorenz G, Schmalenberg M, Kemmner S, Haller B, Steubl D, Pham D, Schreiegg A, Bachmann Q, Schmidt A, Haderer S, Huber M, Angermann S, Günthner R, Braunisch M, Hauser C, Reichelt AL, Matschkal J, Suttmann Y, Moog P, Stock K, Küchle C, Thürmel K, Renders L, Bauer A, Baumann M, Heemann U, Luppa PB, Schmaderer C. Lorenz G, et al. Among authors: gunthner r. Kidney Int. 2018 Jan;93(1):221-230. doi: 10.1016/j.kint.2017.07.010. Epub 2017 Sep 21. Kidney Int. 2018. PMID: 28941940
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