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Publications by Ettore C. degli Uberti

A Novel Germline CDKN1B Mutation Causing Multiple Endocrine Tumors: Clinical, Genetic and Functional Characterization

English

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Identification of a Novel MEN1 Gene Mutation in Saudi Arabian Patient With Multiple Endocrine Tumors

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Clinical, Genetic, and Biophysical Characterization of a Homozygous HERG Mutation Causing Severe Neonatal Long QT Syndrome

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Clinical, Imaging, Pathological, and Biochemical Characterization of a Novel Presenilin 1 Mutation (N135Y) Causing Alzheimer's Disease

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Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association

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Novel Germline MSH2 Mutation in Lynch Syndrome Patient Surviving Multiple Cancers

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A Novel Case With Germline P53 Gene Mutation Having Concurrent Multiple Primary Colon Tumours

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A Family of Multiple Endocrine Neoplasia Type 2A: Genetic Analysis and Clinical Features.

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A Possible New Multiple Endocrine Neoplasia Mutation in a Patient With a Prototypic Multiple Endocrine Neoplasia Presentation

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Positive Germline Selection in Pedigrees With Multiple Endocrine Neoplasia Type 2 Carrying V804M Mutation in the RET Gene

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