Medical genomics: The intricate path from genetic variant identification to clinical interpretation
about
DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Genomic diagnosis for children with intellectual disability and/or developmental delayCase report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.Ethical considerations surrounding germline next-generation sequencing of children with cancer.InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP GuidelinesRapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.No Panacea: Next-Gen Sequencing Will Not Mitigate Adoptees' Lack of Genetic Family Health History.Dynamic Causal Modelling of Dynamic Dysfunction in NMDA-Receptor Antibody EncephalitisA Bayesian framework for efficient and accurate variant prediction
P2860
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P2860
Medical genomics: The intricate path from genetic variant identification to clinical interpretation
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Medical genomics: The intricat ...... ion to clinical interpretation
@ast
Medical genomics: The intricat ...... ion to clinical interpretation
@en
Medical genomics: The intricat ...... ion to clinical interpretation
@nl
type
label
Medical genomics: The intricat ...... ion to clinical interpretation
@ast
Medical genomics: The intricat ...... ion to clinical interpretation
@en
Medical genomics: The intricat ...... ion to clinical interpretation
@nl
prefLabel
Medical genomics: The intricat ...... ion to clinical interpretation
@ast
Medical genomics: The intricat ...... ion to clinical interpretation
@en
Medical genomics: The intricat ...... ion to clinical interpretation
@nl
P2093
P2860
P1476
Medical genomics: The intricat ...... ion to clinical interpretation
@en
P2093
A. Ordóñez-Ugalde
B. Quintáns
M.J. Sobrido
P2860
P356
10.1016/J.ATG.2014.06.001
P407
P577
2014-09-01T00:00:00Z