-
1
-
-
77952822074
-
PheWAS: Demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations
-
Denny, Joshua C, et al. PheWAS: Demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics 26 (2010), 1205-1210.
-
(2010)
Bioinformatics
, vol.26
, pp. 1205-1210
-
-
Denny1
Joshua, C.2
-
2
-
-
84954358609
-
The human phenotype ontology: A tool for annotating and analyzing human hereditary disease
-
Robinson, Peter N., et al The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. The American Journal of Human Genetics 83 (2008), 610-615.
-
(2008)
The American Journal of Human Genetics
, vol.83
, pp. 610-615
-
-
Robinson, P.N.1
-
3
-
-
40449118755
-
Orphanet: A European database for rare diseases
-
Weinreich, Steffanie S., et al Orphanet: a European database for rare diseases. Nederlands tijdschrift voor geneeskunde 152 (2008), 518-519.
-
(2008)
Nederlands Tijdschrift Voor Geneeskunde
, vol.152
, pp. 518-519
-
-
Weinreich, S.S.1
-
4
-
-
64149099583
-
DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources
-
Firth, Helen V., et al DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources. The American Journal of Human Genetics 84 (2009), 524-533.
-
(2009)
The American Journal of Human Genetics
, vol.84
, pp. 524-533
-
-
Firth, H.V.1
-
5
-
-
13444266370
-
Online mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders
-
Hamosh, Ada, et al. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic acids research 33.suppl 1 (2005): D514-D517.
-
(2005)
Nucleic Acids Research
, vol.33
, pp. D514-D517
-
-
Hamosh, A.1
-
6
-
-
0034069495
-
Gene ontology: Tool for the unification of biology
-
Ashburner, Michael, et al. Gene ontology: Tool for the unification of biology. Nature Genetics 25 (2000), 25-29.
-
(2000)
Nature Genetics
, vol.25
, pp. 25-29
-
-
Ashburner, M.1
-
7
-
-
84987596940
-
Automated semantic annotation of rare disease cases: A case study
-
Taboada, Maria, et al. Automated semantic annotation of rare disease cases: a case study. Database 2014 (2014): bau045.
-
(2014)
Database
, vol.2014
, pp. bau045
-
-
Taboada, M.1
-
8
-
-
84928789885
-
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
-
Westbury, Sarah K., et al Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. Genome Medicine 7 (2015), 1.
-
(2015)
Genome Medicine
, vol.7
, pp. 1
-
-
Westbury, S.K.1
-
9
-
-
84977271720
-
EHR based genetic testing knowledge base (iGTKB) development
-
Zhu, Qian, et al. EHR based genetic testing knowledge Base (iGTKB) Development. BMC Medical Informatics and decision making 15 (2015), 1.
-
(2015)
BMC Medical Informatics and Decision Making
, vol.15
, pp. 1
-
-
Zhu, Q.1
-
10
-
-
0345863927
-
The unified medical language system (UMLS): Integrating biomedical terminology
-
Bodenreider, Olivier. The unified medical language system (UMLS): Integrating biomedical terminology. Nucleic acids research 32.suppl 1 (2004): D267-D270.
-
(2004)
Nucleic Acids Research
, vol.32
, pp. D267-D270
-
-
Bodenreider, O.1
-
11
-
-
0035752429
-
Effective mapping of biomedical text to the UMLS metathesaurus: The MetaMap program
-
American Medical Informatics Association
-
Aronson, Alan R. Effective mapping of biomedical text to the UMLS Metathesaurus: the MetaMap program. Proceedings of the AMIA Symposium. American Medical Informatics Association, 2001.
-
(2001)
Proceedings of the AMIA Symposium
-
-
Aronson, A.R.1
-
12
-
-
33748507359
-
Clinical and histopathologic findings of superficial basal cell carcinoma: A comparison with other basal cell carcinoma subtypes
-
Chen, Chih-Chiang, and Chang-Lin Chen. Clinical and histopathologic findings of superficial basal cell carcinoma: a comparison with other basal cell carcinoma subtypes. Journal of the Chinese Medical Association 69 (2006), 364-371.
-
(2006)
Journal of the Chinese Medical Association
, vol.69
, pp. 364-371
-
-
Chen, C.-C.1
Chen, C.-L.2
-
13
-
-
67449150231
-
Increasing burden of melanoma in the United States
-
Linos, Eleni, et al. Increasing burden of melanoma in the United States. Journal of Investigative Dermatology 129 (2009), 1666-1674.
-
(2009)
Journal of Investigative Dermatology
, vol.129
, pp. 1666-1674
-
-
Linos, E.1
-
14
-
-
0034526907
-
Race, iris color, and age-related macular degeneration
-
Frank, Robert N., et al Race, iris color, and age-related macular degeneration. Transactions of the American Ophthalmological Society 98 (2000), 109.
-
(2000)
Transactions of the American Ophthalmological Society
, vol.98
, pp. 109
-
-
Frank, R.N.1
-
15
-
-
47549100876
-
Central centrifugal cicatricial alopecia
-
Whiting, David A., and Elise A. Olsen. Central centrifugal cicatricial alopecia. Dermatologic Therapy 21 (2008), 268-278.
-
(2008)
Dermatologic Therapy
, vol.21
, pp. 268-278
-
-
Whiting, D.A.1
Olsen, E.A.2
-
17
-
-
85040513704
-
-
Available at: http://www.healthline.com/health/wilsons-disease#Overview1
-
-
-
-
18
-
-
84937711841
-
Increased prevalence of subcutaneous lipomas in patients with wilson disease
-
Schaefer, Mark, et al. Increased prevalence of subcutaneous lipomas in patients with Wilson disease. Journal of clinical gastroenterology 49 (2015), e61-e63.
-
(2015)
Journal of Clinical Gastroenterology
, vol.49
, pp. e61-e63
-
-
Schaefer, M.1
-
19
-
-
84989778427
-
Wilson disease with thrombocytopenia (case report)
-
Zhvania, M., et al Wilson disease with thrombocytopenia (case report). Georgian Medical News 237 (2014), 61-64.
-
(2014)
Georgian Medical News
, vol.237
, pp. 61-64
-
-
Zhvania, M.1
-
20
-
-
0018874206
-
Progress in medical information management: Systematized nomenclature of medicine (SNOMED)
-
Cote, Roger A., et al Progress in medical information management: Systematized nomenclature of medicine (SNOMED). JAMA 243 (1980), 756-762.
-
(1980)
JAMA
, vol.243
, pp. 756-762
-
-
Cote, R.A.1
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