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International Charter of principles for sharing bio-specimens and data.
Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJ, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M. Mascalzoni D, et al. Among authors: schaefer f. Eur J Hum Genet. 2015 Jun;23(6):721-8. doi: 10.1038/ejhg.2014.197. Epub 2014 Sep 24. Eur J Hum Genet. 2015. PMID: 25248399 Free PMC article.
International Charter of principles for sharing bio-specimens and data.
Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJ, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M. Mascalzoni D, et al. Among authors: schaefer f. Eur J Hum Genet. 2016 Jul;24(7):1096. doi: 10.1038/ejhg.2015.237. Eur J Hum Genet. 2016. PMID: 27307116 Free PMC article. No abstract available.
The Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. Köhler S, et al. Among authors: schaefer f, f laulederkind sj. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899602 Free PMC article. Review.
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.
Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium. Lochmüller H, et al. Among authors: schaefer f. Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27. Eur J Hum Genet. 2018. PMID: 29487416 Free PMC article.
Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?
Negrisolo S, Carraro A, Fregonese G, Benetti E, Schaefer F, Alberti M, Melchionda S, Fischetto R, Giordano M, Murer L. Negrisolo S, et al. Among authors: schaefer f. Eur J Hum Genet. 2018 Nov;26(11):1708-1712. doi: 10.1038/s41431-018-0213-4. Epub 2018 Jul 4. Eur J Hum Genet. 2018. PMID: 29973660 Free PMC article.
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
Devuyst O, Knoers NV, Remuzzi G, Schaefer F; Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transplant Association. Devuyst O, et al. Among authors: schaefer f. Lancet. 2014 May 24;383(9931):1844-59. doi: 10.1016/S0140-6736(14)60659-0. Lancet. 2014. PMID: 24856029 Free PMC article. Review.
Rare diseases and effective treatments: are we delivering?
Luzzatto L, Hollak CE, Cox TM, Schieppati A, Licht C, Kääriäinen H, Merlini G, Schaefer F, Simoens S, Pani L, Garattini S, Remuzzi G. Luzzatto L, et al. Among authors: schaefer f. Lancet. 2015 Feb 28;385(9970):750-2. doi: 10.1016/S0140-6736(15)60297-5. Lancet. 2015. PMID: 25752159 No abstract available.
U-IMD: the first Unified European registry for inherited metabolic diseases.
Opladen T, Gleich F, Kozich V, Scarpa M, Martinelli D, Schaefer F, Jeltsch K, Juliá-Palacios N, García-Cazorla Á, Dionisi-Vici C, Kölker S. Opladen T, et al. Among authors: schaefer f. Orphanet J Rare Dis. 2021 Feb 18;16(1):95. doi: 10.1186/s13023-021-01726-3. Orphanet J Rare Dis. 2021. PMID: 33602304 Free PMC article.
Disruption of PTPRO causes childhood-onset nephrotic syndrome.
Ozaltin F, Ibsirlioglu T, Taskiran EZ, Baydar DE, Kaymaz F, Buyukcelik M, Kilic BD, Balat A, Iatropoulos P, Asan E, Akarsu NA, Schaefer F, Yilmaz E, Bakkaloglu A; PodoNet Consortium. Ozaltin F, et al. Among authors: schaefer f. Am J Hum Genet. 2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30. Am J Hum Genet. 2011. PMID: 21722858 Free PMC article.
800 results