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「"genet med"[Journal]」の検索結果

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Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.

Clinical and genetic analysis of a rare syndrome associated with neoteny.

Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™).

Gain-of-function mutations in DNMT3A in patients with paraganglioma.

Universal screening of Lynch syndrome is ready for implementation.

Attention: Direct-To-Consumer patrons: Proceed with caution.

A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

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

Expanding the phenome and variome of skeletal dysplasia.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

Familial communication and cascade testing among relatives of BRCA population screening participants.

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