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List of works by Mehrshid Faraji Zonooz

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

scientific article published in September 2017

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

scientific article

Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.

scientific article published on 8 March 2016

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants

scientific article published on 11 June 2019

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