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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1952 1
1955 1
1956 2
1957 5
1958 3
1959 1
1962 5
1965 3
1966 3
1970 2
1972 2
1974 1
1975 2
1976 5
1977 3
1978 12
1979 9
1980 14
1981 11
1982 16
1983 12
1984 12
1985 7
1986 6
1987 3
1988 6
1989 6
1990 5
1991 4
1992 5
1993 5
1994 3
1995 1
1996 5
1997 4
1998 4
1999 6
2000 8
2001 1
2002 3
2003 3
2004 7
2005 5
2006 8
2007 4
2008 11
2009 17
2010 15
2011 23
2012 22
2013 34
2014 26
2015 37
2016 29
2017 37
2018 50
2019 54
2020 36
2021 58
2022 51
2023 41
2024 27

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716 results

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Page 1
Highly accurate protein structure prediction with AlphaFold.
Jumper J, Evans R, Pritzel A, Green T, Figurnov M, Ronneberger O, Tunyasuvunakool K, Bates R, Žídek A, Potapenko A, Bridgland A, Meyer C, Kohl SAA, Ballard AJ, Cowie A, Romera-Paredes B, Nikolov S, Jain R, Adler J, Back T, Petersen S, Reiman D, Clancy E, Zielinski M, Steinegger M, Pacholska M, Berghammer T, Bodenstein S, Silver D, Vinyals O, Senior AW, Kavukcuoglu K, Kohli P, Hassabis D. Jumper J, et al. Among authors: kohl saa. Nature. 2021 Aug;596(7873):583-589. doi: 10.1038/s41586-021-03819-2. Epub 2021 Jul 15. Nature. 2021. PMID: 34265844 Free PMC article.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: kohl s. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
Procurement.
Moss RJ, Batista A, Makridaki D, Süle A, Kohl S. Moss RJ, et al. Among authors: kohl s. Eur J Hosp Pharm. 2019 May;26(3):173-174. doi: 10.1136/ejhpharm-2018-001822. Epub 2019 May 7. Eur J Hosp Pharm. 2019. PMID: 31428327 Free PMC article. Review.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F. Connaughton DM, et al. Among authors: kohl s. Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4. Am J Hum Genet. 2020. PMID: 32891193 Free PMC article.
Achromatopsia.
Kohl S, Jägle H, Wissinger B, Zobor D. Kohl S, et al. 2004 Jun 24 [updated 2018 Sep 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Jun 24 [updated 2018 Sep 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301591 Free Books & Documents. Review.
Hospital pharmacy workforce.
Horák P, Makridaki D, Polidori P, Süle A, Bertin L, Kohl S. Horák P, et al. Among authors: kohl s. Eur J Hosp Pharm. 2024 Jun 21;31(4):384-386. doi: 10.1136/ejhpharm-2023-003919. Eur J Hosp Pharm. 2024. PMID: 37696590 No abstract available.
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: kohl s. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
[Achromatopsia].
Poloschek CM, Kohl S. Poloschek CM, et al. Among authors: kohl s. Ophthalmologe. 2010 Jun;107(6):571-80; quiz 581-2. doi: 10.1007/s00347-010-2178-8. Ophthalmologe. 2010. PMID: 20533046 Review. German.
716 results