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MUZNY, DONNA
One or more keywords matched the following items that are connected to
MUZNY, DONNA
Item Type
Name
Academic Article
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Concept
Charcot-Marie-Tooth Disease
Academic Article
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
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
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Academic Article
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Search Criteria
Tooth