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Publications by Jane Sowden

Clinical Utility Gene Card For: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches

European Journal of Human Genetics

English

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Primary Congenital Glaucoma Including Next-Generation Sequencing-Based Approaches: Clinical Utility Gene Card

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Clinical Utility Gene Card For: Adrenoleukodystrophy

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Clinical Utility Gene Card For: Cystinosis

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Clinical Utility Gene Card For: Alström Syndrome

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Clinical Utility Gene Card For: Fabry Disease

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Clinical Utility Gene Card For: Werner Syndrome

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Clinical Utility Gene Card For: Meckel Syndrome

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Clinical Utility Gene Card For: Rothmund–Thomson Syndrome

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Clinical Utility Gene Card For: Zellweger Syndrome Spectrum

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