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1.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Genet Med
; 18(6): 608-17, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26562225
2.
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Hum Mutat
; 36(10): 931-40, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26251998
3.
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Front Med (Lausanne)
; 4: 62, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28603714
4.
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Orphanet J Rare Dis
; 11(1): 62, 2016 05 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-27179618
5.
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.
Front Med (Lausanne)
; 3: 39, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27785453
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