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原子炉建屋想定し高専生技術競う (デイリースポーツ)

東京電力福島第1原発の原子炉建屋を想定した会場で、高専生が自作ロボットの操作技術を競う「廃炉創造ロボコン」が16日、福島県楢葉町で開かれた。廃炉技術に興味を持っ...

  1. [企業] Andreessen Horo...
  2. 金井さん、17日宇宙へ (デイリースポー...
  3. 宇宙飛行士の金井さん あす打ち上げ 長期...
  4. [企業] Relay社 蛋白質の動きの理...

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「"genet med"[Journal]」の検索結果

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Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines.

Response to Metcalfe et al.

ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.

From public health genomics to precision public health: a 20-year journey.

A systematic analysis of online marketing materials used by providers of expanded carrier screening.

Noncoding copy-number variations are associated with congenital limb malformation.

Low frequency of Fabry disease in patients with common heart disease.

Observed frequency and challenges of variant reclassification in a hereditary cancer clinic.

Age and perceived risks and benefits of preventive genomic screening.

Prevalence of neurofibromatosis type 1 in the Finnish population.

CORRIGENDUM: Sources of discordance among germ-line variant classifications in ClinVar.

Mosaic disorders and the Taxonomy of Human Disease.

Phenocopies in melanoma-prone families with germ-line CDKN2A mutations.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Happy birthday, Genetics in Medicine!

Fragile X population carrier screening.

Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel.

Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results.

Response to Newman et al.

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