Search filters

List of works by Young Se Hyun

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

scientific article published in February 2016

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14 ⬇️

scientific article published on April 7, 2011

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

scientific article

A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

scientific article published on 4 December 2014

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy

scientific journal article

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families

scientific article

Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations

scientific article published on 21 April 2016

DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease

scientific article published on 20 January 2016

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy

scientific article published on 31 October 2013

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

scientific article published on 30 March 2016

MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis

scientific article published on 18 April 2011

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

scientific article

Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene

scientific article

Paulina is supported by:

About Paulina

Help