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List of works by Alessandro Vaisfeld

A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.

scientific article published on 11 December 2017

Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma

scientific article published on 17 November 2020

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

scientific article published on 11 April 2017

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

scientific article published on 01 October 2019

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights

scientific article published in 2022

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

scientific article

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