Associated Papers
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Yu X et al.
Orphanet Journal of Rare Diseases, 2020
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
Wang H et al.
Bmc Medical Genetics, 2019
CDKN2A/P16INK4A variants association with breast cancer and their in-silico analysis.
Aftab A et al.
Breast Cancer (tokyo, Japan), 2019
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Ha AD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.
Blesa JR et al.
Neuromolecular Medicine, 2007
A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene.
Ujike H et al.
Archives of Neurology, 2001
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