Detalhe da pesquisa
1.
PhenomeCentral: 7 years of rare disease matchmaking.
Hum Mutat
; 43(6): 674-681, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35165961
2.
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.
Hum Mutat
; 36(10): 922-7, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26255989
3.
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Hum Mutat
; 36(10): 931-40, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26251998
4.
The Matchmaker Exchange: a platform for rare disease gene discovery.
Hum Mutat
; 36(10): 915-21, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26295439
5.
PhenoTips: patient phenotyping software for clinical and research use.
Hum Mutat
; 34(8): 1057-65, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23636887
6.
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.
Front Med (Lausanne)
; 3: 39, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27785453