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GIBBS, RICHARD
One or more keywords matched the following items that are connected to
GIBBS, RICHARD
Item Type
Name
Academic Article
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Concept
Charcot-Marie-Tooth Disease
Academic Article
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Academic Article
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Academic Article
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Academic Article
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Academic Article
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Academic Article
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Search Criteria
Charcot Marie Tooth Disease