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
1946 14
1947 7
1948 3
1949 4
1950 17
1951 24
1952 31
1953 39
1954 32
1955 32
1956 37
1957 29
1958 41
1959 33
1960 41
1961 34
1962 39
1963 60
1964 62
1965 31
1999 1
2002 15
2003 39
2004 40
2005 67
2006 79
2007 69
2008 114
2009 77
2010 182
2011 209
2012 334
2013 281
2014 419
2015 376
2016 382
2017 448
2018 456
2019 499
2020 446
2021 378
2022 323
2023 322
2024 108

Text availability

Article attribute

Article type

Publication date

Search Results

5,720 results

Results by year

Filters applied: . Clear all
Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
How many rare diseases are there?
Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, Hamosh A, Baynam G, Groza T, McMurry J, Dawkins H, Rath A, Thaxton C, Bocci G, Joachimiak MP, Köhler S, Robinson PN, Mungall C, Oprea TI. Haendel M, et al. Nat Rev Drug Discov. 2020 Feb;19(2):77-78. doi: 10.1038/d41573-019-00180-y. Nat Rev Drug Discov. 2020. PMID: 32020066 Free PMC article.
Biomarkers in Rare Diseases.
Bax BE. Bax BE. Int J Mol Sci. 2021 Jan 12;22(2):673. doi: 10.3390/ijms22020673. Int J Mol Sci. 2021. PMID: 33445477 Free PMC article.
[Rare diseases].
Reichmann H. Reichmann H. Fortschr Neurol Psychiatr. 2023 Apr;91(4):126-127. doi: 10.1055/a-2022-4203. Epub 2023 Apr 13. Fortschr Neurol Psychiatr. 2023. PMID: 37055012 German. No abstract available.
Rare diseases: maintaining momentum.
The Lancet Neurology. The Lancet Neurology. Lancet Neurol. 2022 Mar;21(3):203. doi: 10.1016/S1474-4422(22)00046-1. Lancet Neurol. 2022. PMID: 35182497 No abstract available.
Exome/Genome Sequencing in Undiagnosed Syndromes.
Sullivan JA, Schoch K, Spillmann RC, Shashi V. Sullivan JA, et al. Annu Rev Med. 2023 Jan 27;74:489-502. doi: 10.1146/annurev-med-042921-110721. Annu Rev Med. 2023. PMID: 36706750 Free PMC article. Review.
Rare pulmonary diseases: a common fight.
Harari S, Humbert M. Harari S, et al. Eur Respir Rev. 2017 Sep 6;26(145):170059. doi: 10.1183/16000617.0059-2017. Print 2017 Sep 30. Eur Respir Rev. 2017. PMID: 28877977 Free PMC article.
Health Care on Rare Diseases.
Cortés-Martín J, Sánchez-García JC, Rodríguez-Blanque R. Cortés-Martín J, et al. Int J Environ Res Public Health. 2022 Dec 27;20(1):395. doi: 10.3390/ijerph20010395. Int J Environ Res Public Health. 2022. PMID: 36612717 Free PMC article.
Biomarkers in Rare Diseases 2.0.
Bax BE. Bax BE. Int J Mol Sci. 2022 Apr 21;23(9):4582. doi: 10.3390/ijms23094582. Int J Mol Sci. 2022. PMID: 35562973 Free PMC article.
New Pharmacological Approaches for Rare Diseases.
Ortega-Gutiérrez S. Ortega-Gutiérrez S. Int J Mol Sci. 2023 Apr 14;24(8):7275. doi: 10.3390/ijms24087275. Int J Mol Sci. 2023. PMID: 37108436 Free PMC article.
5,720 results