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「"genet med"[Journal]」の検索結果

2210件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research.

Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?

The collaborative African genomics network training program: a trainee perspective on training the next generation of African scientists.

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.

Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.

21-Gene recurrence score testing among Medicare beneficiaries with breast cancer in 2010-2013.

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort.

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

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