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 Custom Filters

Results by year

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

Year Number of Results
1913 2
1914 1
1922 1
1923 1
1924 1
1925 2
1926 2
1927 1
1928 1
1930 1
1931 1
1932 1
1933 3
1934 1
1935 2
1936 3
1938 1
1939 4
1941 1
1942 2
1944 1
1945 2
1946 11
1947 4
1948 9
1949 15
1950 10
1951 10
1952 9
1953 7
1954 9
1955 6
1956 3
1957 16
1958 15
1959 10
1960 12
1961 10
1962 13
1963 12
1964 9
1965 7
1966 8
1967 12
1968 13
1969 10
1970 11
1971 12
1972 13
1973 12
1974 9
1975 4
1976 4
1977 3
1978 7
1979 7
1980 4
1981 3
1982 7
1983 11
1984 9
1985 3
1986 13
1987 11
1988 3
1989 4
1990 11
1991 14
1992 19
1993 19
1994 15
1995 17
1996 14
1997 17
1998 11
1999 11
2000 10
2001 14
2002 9
2003 14
2004 12
2005 15
2006 14
2007 9
2008 21
2009 13
2010 12
2011 17
2012 10
2013 17
2014 9
2015 14
2016 13
2017 17
2018 19
2019 20
2020 25
2021 34
2022 14
2023 21
2024 14

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

913 results

Results by year

Filters applied: . Clear all
Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: burn j. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Clinical genetics.
Burn J. Burn J. Br Med J (Clin Res Ed). 1983 Oct 8;287(6398):999-1000. doi: 10.1136/bmj.287.6398.999. Br Med J (Clin Res Ed). 1983. PMID: 6412958 Free PMC article. No abstract available.
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.
Dominguez-Valentin M, Haupt S, Seppälä TT, Sampson JR, Sunde L, Bernstein I, Jenkins MA, Engel C, Aretz S, Nielsen M, Capella G, Balaguer F, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Della Valle A, Heinimann K, Dębniak T, Fruscio R, Lopez-Koestner F, Alvarez-Valenzuela K, Katz LH, Laish I, Vainer E, Vaccaro C, Carraro DM, Monahan K, Half E, Stakelum A, Winter D, Kennelly R, Gluck N, Sheth H, Abu-Freha N, Greenblatt M, Rossi BM, Bohorquez M, Cavestro GM, Lino-Silva LS, Horisberger K, Tibiletti MG, Nascimento ID, Thomas H, Rossi NT, Apolinário da Silva L, Zaránd A, Ruiz-Bañobre J, Heuveline V, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Therkildsen C, Madsen MG, Burgdorf SK, Hopper JL, Win AK, Haile RW, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, von Knebel Doeberitz M, Loeffler M, Rahner N, Schröck E, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, Redler S, Büttner R, Weitz J, Pineda M, Duenas N, Vidal JB, Moreira L, Sánchez A, Hovig E, Nakken S, Green K, Lalloo F, Hill J, Crosbie E, Mints M, Goldb… See abstract for full author list ➔ Dominguez-Valentin M, et al. Among authors: burn j. EClinicalMedicine. 2023 Mar 20;58:101909. doi: 10.1016/j.eclinm.2023.101909. eCollection 2023 Apr. EClinicalMedicine. 2023. PMID: 37181409 Free PMC article.
The Schinzel-Giedion syndrome.
al-Gazali LI, Farndon P, Burn J, Flannery DB, Davison C, Mueller RF. al-Gazali LI, et al. Among authors: burn j. J Med Genet. 1990 Jan;27(1):42-7. doi: 10.1136/jmg.27.1.42. J Med Genet. 1990. PMID: 2407846 Free PMC article. Review. No abstract available.
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.
Zaffaroni G, Mannucci A, Koskenvuo L, de Lacy B, Maffioli A, Bisseling T, Half E, Cavestro GM, Valle L, Ryan N, Aretz S, Brown K, Buttitta F, Carneiro F, Claber O, Blanco-Colino R, Collard M, Crosbie E, Cunha M, Doulias T, Fleming C, Heinrich H, Hüneburg R, Metras J, Nagtegaal I, Negoi I, Nielsen M, Pellino G, Ricciardiello L, Sagir A, Sánchez-Guillén L, Seppälä TT, Siersema P, Striebeck B, Sampson JR, Latchford A, Parc Y, Burn J, Möslein G. Zaffaroni G, et al. Among authors: burn j. Br J Surg. 2024 May 3;111(5):znae070. doi: 10.1093/bjs/znae070. Br J Surg. 2024. PMID: 38722804 Free PMC article.
Last dance.
Burn J. Burn J. Nursing. 2002 Aug;32(8):57. doi: 10.1097/00152193-200208000-00050. Nursing. 2002. PMID: 12352855 No abstract available.
Obstructive lymphopathy.
Burn JI. Burn JI. Ann R Coll Surg Engl. 1968 Feb;42(2):93-113. Ann R Coll Surg Engl. 1968. PMID: 4170564 Free PMC article. No abstract available.
"Pseudonormonatraemia".
Burn J, Gill GV. Burn J, et al. Br Med J. 1979 Nov 3;2(6198):1110-1. doi: 10.1136/bmj.2.6198.1110-a. Br Med J. 1979. PMID: 519315 Free PMC article. No abstract available.
Essential pharmacology.
Burn JH. Burn JH. Annu Rev Pharmacol. 1969;9:1-20. doi: 10.1146/annurev.pa.09.040169.000245. Annu Rev Pharmacol. 1969. PMID: 4389243 Review. No abstract available.
913 results