博士（医学）信州大学(Shinshu university)Doctoral医学乙第1225号雑誌に発表。PLOS ONE. 13(3):e0193359 (2018); doi:10.1371/journal.pone.0193359
Genetic factors, the most common etiology in severe to profound hearing loss, are one of the key det...
Target exon resequencing using Massively Parallel DNA Sequencing (MPS) is a new powerful strategy to...
Although etiological studies have shown genetic disorders to be a common cause of congenital/early-o...
<div><p>A heterozygous mutation in the Wolfram syndrome type 1 gene (<i>WFS1</i>) causes autosomal d...
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsynd...
<div><p>A variant in a transcription factor gene, <i>POU4F3</i>, is responsible for autosomal domina...
The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-s...
A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic...
信州大学(Shinshu university)博士（医学）雑誌に発表。PLOS ONE. 11(9):e0162230 (2016); doi:10.1371/journal.pone.016223...
The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-s...
Introduction: Sensorineural hearing loss is the most frequent type of hearing impairment in the huma...
信州大学(Shinshu university)博士（医学）雑誌に発表。BMC MEDICAL GENETICS. 14():95 (2013); doi:10.1186/1471-2350-14-9...
Although etiological studies have shown genetic disorders to be a common cause of congenital/early-o...
Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence...
BACKGROUND: Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, w...
Genetic factors, the most common etiology in severe to profound hearing loss, are one of the key det...
Target exon resequencing using Massively Parallel DNA Sequencing (MPS) is a new powerful strategy to...
Although etiological studies have shown genetic disorders to be a common cause of congenital/early-o...
<div><p>A heterozygous mutation in the Wolfram syndrome type 1 gene (<i>WFS1</i>) causes autosomal d...
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsynd...
<div><p>A variant in a transcription factor gene, <i>POU4F3</i>, is responsible for autosomal domina...
The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-s...
A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic...
信州大学(Shinshu university)博士（医学）雑誌に発表。PLOS ONE. 11(9):e0162230 (2016); doi:10.1371/journal.pone.016223...
The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-s...
Introduction: Sensorineural hearing loss is the most frequent type of hearing impairment in the huma...
信州大学(Shinshu university)博士（医学）雑誌に発表。BMC MEDICAL GENETICS. 14():95 (2013); doi:10.1186/1471-2350-14-9...
Although etiological studies have shown genetic disorders to be a common cause of congenital/early-o...
Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence...
BACKGROUND: Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, w...
Genetic factors, the most common etiology in severe to profound hearing loss, are one of the key det...
Target exon resequencing using Massively Parallel DNA Sequencing (MPS) is a new powerful strategy to...
Although etiological studies have shown genetic disorders to be a common cause of congenital/early-o...
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