Literature DB >> 22521575

Classification and codification of rare diseases.

Yllka Kodra, Bernardino Fantini, Domenica Taruscio.   

Abstract

Mesh：

Year:  2012        PMID： 22521575     DOI： 10.1016/j.jclinepi.2012.02.014

Source DB:  PubMed          Journal:  J Clin Epidemiol        ISSN： 0895-4356            Impact factor:   6.437


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  3 in total

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3.  Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.

Authors:  Cartik Kothari; Siddharth Srivastava; Youssef Kousa; Rima Izem; Marcin Gierdalski; Dongkyu Kim; Amy Good; Kira A Dies; Gregory Geisel; Hiroki Morizono; Vittorio Gallo; Scott L Pomeroy; Gwenn A Garden; Lisa Guay-Woodford; Mustafa Sahin; Paul Avillach
Journal:  J Neurodev Disord       Date:  2022-03-23       Impact factor: 4.025
  3 in total

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