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「"genet med"[Journal]」の検索結果

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Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.

A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features.

Pathways from autism spectrum disorder diagnosis to genetic testing.

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.

A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number.

Response to Hartley et al. and Mullegama et al.

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Trends in utilization and costs of BRCA testing among women aged 18-64 years in the United States, 2003-2014.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Impact of HIPAA's minimum necessary standard on genomic data sharing.

Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network's Common Measures Working Group.

Fragile X testing as a second-tier test.

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.

In This Issue.

News Briefs.

Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium.

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.

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