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「"genet med"[Journal]」の検索結果

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Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup.

GWAS signals revisited using human knockouts.

The importance of communicating histories of gender assignment and reassignment to genetic laboratories.

Systematic design and comparison of expanded carrier screening panels.

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.

Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014.

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review.

Broad consent for health care-embedded biobanking: understanding and reasons to donate in a large patient sample.

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases.

Oral D-galactose supplementation in PGM1-CDG.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

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

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.

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