Associated Papers
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
36564540 (PubMed )
Supplement: 41598_2022_26850_MOESM3_ESM.xlsx › RawData
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.
Dubot P et al.
Jimd Reports, 2019
Refsum Disease Presenting with a Late-Onset Leukodystrophy.
Bompaire F et al.
Jimd Reports, 2015
Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.
Finsterer J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2008
Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa.
Finsterer J et al.
Journal of the Neurological Sciences, 2008
Select a paper to view details