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Publications by Pauline A M P Toolens

Genotype–phenotype Studies in Nail-Patella Syndrome Show That LMX1B Mutation Location Is Involved in the Risk of Developing Nephropathy

European Journal of Human Genetics

English

Related publications

Achondroplasia and Nail-Patella Syndrome: The Compound Phenotype

Journal of Medical Genetics

English

Nail-Patella Syndrome

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Nail Patella Syndrome

Indian Journal of Pediatrics

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Deletion of a Branch-Point Consensus Sequence in the LMX1B Gene Causes Exon Skipping in a Family With Nail Patella Syndrome

European Journal of Human Genetics

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Familial Colon Carcinoma in Nail-Patella Syndrome

American Journal of Roentgenology

Nuclear Medicine

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Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

American Journal of Human Genetics

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A Hypoplastic Patella Fracture in Nail Patella Syndrome: A Case Report

Journal of Medical Case Reports

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The Use of Genotype-Phenotype Correlations in Mutation Analysis for the Long QT Syndrome

Journal of Medical Genetics

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Operative Treatment for the Knee of Nail-Patella Syndrome.

Orthopedics & Traumatology

English