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

List of works by Dana Marafi

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

scientific article published in 2022

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

scientific article published on 17 October 2019

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

scientific article published on 11 July 2019

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

scientific article published on 14 April 2020

Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy

scientific article published on 26 April 2021

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

scientific article published on 04 October 2020

Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease

scientific article published on 04 November 2020

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

scientific article published on 24 November 2021

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