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「"genet med"[Journal]」の検索結果

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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.

Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data.

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

Genome editing in clinical genetics: points to consider-a statement of the American College of Medical Genetics and Genomics.

Promoting appropriate genetic testing: the impact of a combined test review and consultative service.

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.

Recontacting participants for expanded uses of existing samples and data: a case study.

Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.

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