Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1954 1
1961 1
1962 1
1965 1
1966 2
1967 2
1968 1
1970 3
1971 3
1972 3
1973 4
1974 3
1975 3
1976 4
1977 4
1978 6
1979 3
1980 3
1981 1
1982 1
1983 1
1984 1
1985 1
1986 1
1987 1
1988 1
1989 3
1990 2
1991 5
1992 6
1993 2
1994 3
1995 1
1996 3
1997 6
1998 2
1999 1
2000 3
2001 2
2002 4
2003 2
2004 5
2005 7
2006 8
2007 3
2008 7
2010 7
2011 3
2012 6
2013 6
2014 5
2015 13
2016 9
2017 9
2018 4
2019 3
2020 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

186 results

Results by year

Filters applied: . Clear all
Page 1
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Among authors: scott cr. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC article.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Germain DP, et al. Among authors: scott cr. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. N Engl J Med. 2016. PMID: 27509102 Free article. Clinical Trial.
Tyrosinemia Type I.
Sniderman King L, Trahms C, Scott CR. Sniderman King L, et al. Among authors: scott cr. 2006 Jul 24 [updated 2017 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Jul 24 [updated 2017 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301688 Free Books & Documents. Review.
Iron should be restricted in acute infection.
Scott CR, Holbein BE, Lehmann CD. Scott CR, et al. Front Biosci (Landmark Ed). 2020 Jan 1;25(4):673-682. doi: 10.2741/4827. Front Biosci (Landmark Ed). 2020. PMID: 31585910 Free article. Review.
Long-term treatment outcomes in Gaucher disease.
Charrow J, Scott CR. Charrow J, et al. Among authors: scott cr. Am J Hematol. 2015 Jul;90 Suppl 1:S19-24. doi: 10.1002/ajh.24056. Am J Hematol. 2015. PMID: 26096742 Free article. Review.
Newborn screening for lysosomal storage diseases.
Gelb MH, Scott CR, Turecek F. Gelb MH, et al. Among authors: scott cr. Clin Chem. 2015 Feb;61(2):335-46. doi: 10.1373/clinchem.2014.225771. Epub 2014 Dec 4. Clin Chem. 2015. PMID: 25477536 Free PMC article. Review.
The genetic tyrosinemias.
Scott CR. Scott CR. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):121-6. doi: 10.1002/ajmg.c.30092. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602095 Review.
Hematologically important mutations: Gaucher disease.
Beutler E, Gelbart T, Scott CR. Beutler E, et al. Among authors: scott cr. Blood Cells Mol Dis. 2005 Nov-Dec;35(3):355-64. doi: 10.1016/j.bcmd.2005.07.005. Epub 2005 Sep 26. Blood Cells Mol Dis. 2005. PMID: 16185900 Review. No abstract available.
186 results