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「"genet med"[Journal]」の検索結果

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Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.

A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system.

Response to Koeller et al.

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

In This Issue.

News Briefs.

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.

Health effects of the CPT1A P479L variant: responsible public health policy.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Should we implement population screening for fragile X?

Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment.

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.

Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study.

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

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