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Authors whose works are in public domain in at least one jurisdiction

List of works by Meghan C Towne

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

scientific article published in November 2017
Emerging Genetic Counselor Roles within the Biotechnology and Pharmaceutical Industries: as Industry Interest Grows in Rare Genetic Disorders, How are Genetic Counselors Joining the Discussion?

scientific article published on March 28, 2016
NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings

scientific article published on 01 May 2014
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

scientific article published on 30 October 2019
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

scientific article published on 14 September 2021
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

scientific article published on 31 May 2023
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher

scientific article published on 10 February 2022
When moments matter: Finding answers with rapid exome sequencing

scientific article published on 24 December 2019

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