Associated Papers
Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review.
Shokouhian E et al.
Journal of Applied Genetics, 2026
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.
Gao X et al.
Human Genetics, 2025
Generation of the human induced pluripotent stem cell line PUMCi005-A from a patient with Perrault syndrome.
Wang YB et al.
Stem Cell Research, 2024
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature.
Wei L et al.
Pharmacogenomics and Personalized Medicine, 2022
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered
Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.
Mamlouk S et al.
Bmc Biology, 2020
32895052 (PubMed )
Supplement: 12915_2020_844_MOESM4_ESM.xlsx › AC31_Ad_private
[Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features].
Duan X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
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