Associated Papers
A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.
Fan Q et al.
Bmc Medical Genetics, 2019
30894134 (PubMed )
Supplement: 12881_2019_782_MOESM1_ESM.xlsx › Sheet2
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions.
Belmonte FR et al.
Scientific Reports, 2016
27122135 (PubMed )
Supplement: srep25186-s1.pdf
Extensive intracranial calcifications in a patient with a novel polymerase γ-1 mutation.
Sidiropoulos C et al.
Neurology, 2013
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