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「"genet med"[Journal]」の検索結果

2206件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

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.

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome.

Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.

Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells.

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China.

Motivations of participants in the citizen science of microbiomics: data from the British Gut Project.

Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data.

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