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Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.
Experience with one-stage laryngotracheal reconstruction.
GTP Phosphohydrolase Activators
Reliability, Feasibility, and Patient Acceptance of an Electronic Version of a Multidimensional Health Assessment Questionnaire for Routine Rheumatology Care: Validation and Patient Preference Study.
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
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Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.
Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. Sci Adv. 2019 08; 5(8):eaaw7195.
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subject areas
Databases, Genetic
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Association Studies
Genetic Predisposition to Disease
Heterozygote
Humans
Male
Mutation
Phenotype
Population Surveillance
ROC Curve
Workflow
authors with profiles
Elizabeth M Berry-Kravis