List of works - Meghan C Towne - Paulina

List of works by Meghan C Towne

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

scientific article published on 30 October 2019

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher

scientific article published on 10 February 2022

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

scientific article published on 14 September 2021

When moments matter: Finding answers with rapid exome sequencing

scientific article published on 24 December 2019

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