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Publications by M Bertolani

BAP1 Tumour Predisposition Syndrome: A New Mutation in One Family

Acta Dermato-Venereologica

English

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A New Family With a germlineANKRD26mutation and Predisposition to Myeloid Malignancies

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A Family With Sertoli–Leydig Cell Tumour, Multinodular Goiter, and DICER1 Mutation

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A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome

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Peutz-Jeghers Syndrome: Four Cases in One Family

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Pathogenic Effect of a TGFBR1 Mutation in a Family With Loeys–Dietz Syndrome

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A Family With Liddle's Syndrome Caused by a New C.1721 Deletion Mutation in the Epithelial Sodium Channel Β‑subunit

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Identification of a Novel TCOF1 Mutation in a Chinese Family With Treacher Collins Syndrome

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A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

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Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

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