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[sdgs]sdg3
1
adenine; guanine; mitochondrial dna; ribosome rna; adult; amino acid substitution; article; clinical article; clinical feature; female; gene mutation; genetic association; genetic screening; genetic variability; haplotype; heterozygosity; human; male; mitochondrial gene; nucleotide sequence; ototoxicity; pedigree; penetrance; perception deafness; phenotype; rna gene; school child; screening test; taiwan; temporal bone
1
adiponectin; adiponectin receptor 1; adiponectin; adiponectin receptor; adipoq protein, human; adipoq protein, mouse; adipor1 protein, human; adipoq gene; adipor1 gene; adult; age related hearing impairment; article; auditory threshold; female; gene; gene expression; gene identification; genotype; hearing impairment; human; major clinical study; male; pathophysiology; priority journal; protein blood level; single nucleotide polymorphism; aged; aging; animal; apoptosis; blood; cell culture; cochlea; cytology; drug effects; epistasis; genetic association; genetics; hearing impairment; inner ear; metabolism; middle aged; mouse; pathology; physiology; very elderly; adiponectin; adult; aged; aged, 80 and over; aging; animals; apoptosis; cells, cultured; cochlea; ear, inner; epistasis, genetic; female; genetic association studies; genotype; hearing loss; humans; male; mice; middle aged; polymorphism, single nucleotide; receptors, adiponectin
1
connexin 26; myosin viia; potassium channel kcnq4; adult; article; autosomal dominant inheritance; bioinformatics; child; cohort analysis; controlled study; diagnostic procedure; diagnostic value; family; family history; female; gene; gene frequency; gene sequence; genetic conservation; genetic diagnosis; genetic procedures; genetic variability; gjb2 gene; gjb4 gene; heterozygosity; human; idiopathic disease; indel mutation; kcnq4 gene; male; massively parallel sequencing; missense mutation; mouse; multiplex family; mutational analysis; myh9 gene; myo7a gene; nonhuman; nucleotide sequence; perception deafness; phenotype; sanger sequencing; school child; segregation analysis; validation process
1
membrane protein; otof protein, human; adolescent; article; asian; audiometry; child; female; genetic association; genetic screening; genetics; genotype; haplotype; hearing loss; human; infant; male; pedigree; phenotype; preschool child; prospective study; single nucleotide polymorphism; taiwan; vestibulocochlear nerve disease; adolescent; asian continental ancestry group; audiometry; child; child, preschool; female; genetic association studies; genetic testing; genotype; haplotypes; hearing loss, central; humans; infant; male; membrane proteins; pedigree; phenotype; polymorphism, single nucleotide; prospective studies; taiwan
1
mitochondrial rna; rna 12s; adolescent; adult; article; auditory rehabilitation; child; clinical feature; cohort analysis; comparative study; controlled study; female; gene frequency; gene mutation; genetic screening; genotype; health care facility; human; infant; major clinical study; male; multigene family; perception deafness; priority journal; prospective study; statistical significance; taiwan
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2010 - 2019
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2000 - 2009
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pei-jer chen
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全文
1
2015
Contribution of adiponectin and its type 1 receptor to age-related hearing impairment
Chen-Chi Wu
; Tsai C.-H.; Lu Y.-C.; Lin H.-C.; Hwang J.-H.; Lin Y.-H.; WEI-SHIUNG YANG
; PEI-JER CHEN
; WEI-CHIH LIAO
; Lee Y.L.; TIEN-CHEN LIU
; Hsu C.-J.
Neurobiology of Aging
14
13
2
2013
Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment
Chen-Chi Wu
; Lin Y.-H.; Lu Y.-C.; PEI-JER CHEN
; WEI-SHIUNG YANG
; Hsu C.-J.; PEI-LUNG CHEN
PLoS ONE
33
47
3
2011
Establishment of a knock-in mouse model with the SLC26A4 c.919-2a>G mutation and characterization of its pathology
Lu Y.-C.; Chen-Chi Wu
; Shen W.-S.; TING-HUA YANG
; TE-HUEI YEH
; PEI-JER CHEN
; Yu I.-S.; SHU-WHA LIN
; Wong J.-M.; Chang Q.; Lin X.; Hsu C.-J.
PLoS ONE
42
39
4
2010
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy
Chiu Y.-H.; Chen-Chi Wu
; Lu Y.-C.; PEI-JER CHEN
; Lee W.-Y.; Liu A.Y.-Z.; Hsu C.-J.
Audiology and Neurotology
49
49
5
2010
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndrome
Chen-Chi Wu
; Lu Y.-C.; PEI-JER CHEN
; Yeh P.-L.; Su Y.-N.; WUH-LIANG HWU
; Hsu C.-J.
Audiology and Neurotology
62
56
6
2009
Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment
CHEN-CHI WU
; Lu Y.-C.; PEI-JER CHEN
; Liu A.Y.-Z.; WUH-LIANG HWU
; Hsu C.-J.
Laryngoscope
15
15
7
2008
Prospective mutation screening of three common deafness genes in a large Taiwanese cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities
Chen-Chi Wu
; PEI-JER CHEN
; Chiu Y.-H.; Lu Y.-C.; Wu M.-C.; Hsu C.-J.
Audiology and Neurotology
33
33
8
2008
Predominance of genetic diagnosis and imaging results as predictors in determining the speech perception performance outcome after cochlear implantation in children
Chen-Chi Wu
; Lee Y.-C.; PEI-JER CHEN
; Hsu C.-J.
Archives of Pediatrics and Adolescent Medicine
42
38
9
2007
Prevalence and clinical features of the mitochondrial m.1555A>G mutation in Taiwanese patients with idiopathic sensorineural hearing loss and association of haplogroup F with low penetrance in three families
Chen-Chi Wu
; Chiu Y.-H.; PEI-JER CHEN
; Hsu C.-J.
Ear and Hearing
29
24
10
2005
Common clinical features of children with enlarged vestibular aqueduct and mondini dysplasia
Chen-Chi Wu
; Chen Y.-S.; PEI-JER CHEN
; Hsu C.-J.
Laryngoscope
60
56
11
2005
Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: A unique spectrum of mutations in Taiwan, including a frequent founder mutation
Chen-Chi Wu
; TE-HUEI YEH
; PEI-JER CHEN
; Hsu C.-J.
Laryngoscope
70
67
12
2005
Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations
Chen-Chi Wu
; PEI-JER CHEN
; Hsu C.-J.
Audiology and Neurotology
16
18
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