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List of works by Yesim Parman

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

scientific article

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

scientific article

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

scientific article

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

scientific article

Prepubertal anti-Musk positive myasthenia gravis with long remission

scientific article published on 14 August 2013

Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP

scientific article

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

scientific article published on 18 September 2014

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