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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 2 |
2015 | 3 |
2024 | 0 |
Search Results
5 results
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Page 1
Human genotype-phenotype databases: aims, challenges and opportunities.
Nat Rev Genet. 2015 Dec;16(12):702-15. doi: 10.1038/nrg3932. Epub 2015 Nov 10.
Nat Rev Genet. 2015.
PMID: 26553330
Review.
Disease insights through cross-species phenotype comparisons.
Haendel MA, Vasilevsky N, Brush M, Hochheiser HS, Jacobsen J, Oellrich A, Mungall CJ, Washington N, Köhler S, Lewis SE, Robinson PN, Smedley D.
Haendel MA, et al.
Mamm Genome. 2015 Oct;26(9-10):548-55. doi: 10.1007/s00335-015-9577-8. Epub 2015 Jun 20.
Mamm Genome. 2015.
PMID: 26092691
Free PMC article.
Review.
Item in Clipboard
Clinical interpretation of CNVs with cross-species phenotype data.
Köhler S, Schoeneberg U, Czeschik JC, Doelken SC, Hehir-Kwa JY, Ibn-Salem J, Mungall CJ, Smedley D, Haendel MA, Robinson PN.
Köhler S, et al.
J Med Genet. 2014 Nov;51(11):766-772. doi: 10.1136/jmedgenet-2014-102633. Epub 2014 Oct 3.
J Med Genet. 2014.
PMID: 25280750
Free PMC article.
Item in Clipboard
Deletions of chromosomal regulatory boundaries are associated with congenital disease.
Ibn-Salem J, Köhler S, Love MI, Chung HR, Huang N, Hurles ME, Haendel M, Washington NL, Smedley D, Mungall CJ, Lewis SE, Ott CE, Bauer S, Schofield PN, Mundlos S, Spielmann M, Robinson PN.
Ibn-Salem J, et al.
Genome Biol. 2014 Sep 4;15(9):423. doi: 10.1186/s13059-014-0423-1.
Genome Biol. 2014.
PMID: 25315429
Free PMC article.
Item in Clipboard
The Matchmaker Exchange: a platform for rare disease gene discovery.
Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL.
Philippakis AA, et al.
Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.
Hum Mutat. 2015.
PMID: 26295439
Free PMC article.
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