List of works - Katherine Schon - Paulina

List of works by Katherine Schon

Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.

scientific article published on 14 January 2018

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

scientific article published on 01 June 2021

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

scientific article published on 01 May 2022

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases

scientific article published on 18 August 2021

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

scientific article published on 06 January 2017

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

scientific article published on 04 November 2021

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