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Publications by Carolyn E. Pizoli

the Importance of Managing the Patient and Not the Gene: Expanded Phenotype of GLE1 -Associated Arthrogryposis

Cold Spring Harbor molecular case studies
BiochemistryMolecular MedicineGenetics
2017English

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Broadening the Phenotype of the TWNK Gene Associated Perrault Syndrome

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Hoxa9 Influences the Phenotype but Not the Incidence of MLL-Af9 Fusion Gene Leukemia

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Stereocilin Gene Variants Associated With Episodic Vertigo: Expansion of the DFNB16 Phenotype

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The Importance of Not Being Earnest

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Managing the Diabetic Kidney Patient

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Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia

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A 63-Bp Insertion in Exon 2 of the Porcine KIF21A Gene Is Associated With Arthrogryposis Multiplex Congenita

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New Ocular Phenotype Associated With a Mutation in the PAX2 Gene

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The Evolution of Gene Expression and the Transcriptome–phenotype Relationship

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