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Supplement: pbio.3002680.s016.xlsx › ClinVar
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
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Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?
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Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
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Human Mutation, 2018
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