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Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report

Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogene...

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Detalhes bibliográficos
Publicado no:J Oral Biol Craniofac Res
Main Authors: Kunwar, Fulesh, Tewari, Shikha, Bakshi, Sonal R.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5343159/
https://ncbi.nlm.nih.gov/pubmed/28316926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jobcr.2016.07.002
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