scholarly article | Q13442814 |
P50 | author | Ketil R. Heimdal | Q47117011 |
P2093 | author name string | Toril Fagerheim | |
Trond P Leren | |||
Claude Laurent | |||
Geir Siem | |||
Andreas Früh | |||
Sten Harris | |||
Christoffer Jonsrud | |||
Erik Teig | |||
P2860 | cites work | Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates | Q50451588 |
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss | Q50453163 | ||
GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects | Q50453224 | ||
Year 2007 position statement: Principles and guidelines for early hearing detection and intervention programs | Q50455436 | ||
The prevalence of the 235delC GJB2 mutation in a Chinese deaf population | Q50457500 | ||
GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment | Q50478281 | ||
Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland | Q50482308 | ||
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs | Q50486160 | ||
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen | Q50493312 | ||
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome | Q51145417 | ||
Cochlear implantation in deaf children with associated disabilities: challenges and outcomes. | Q51892176 | ||
Genetic epidemiology of BRCA1 mutations in Norway. | Q53145195 | ||
High carrier frequency of the 35delG deafness mutation in European populations | Q56949999 | ||
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment | Q28216378 | ||
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy | Q28274777 | ||
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers | Q28292102 | ||
Connexin 26 mutations in autosomal recessive deafness disorders: a review | Q28293305 | ||
Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement | Q30474292 | ||
At the speed of sound: gene discovery in the auditory system | Q30502974 | ||
Diagnostic accuracy of screening electrocardiograms in long QT syndrome I. | Q33146531 | ||
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome | Q33153549 | ||
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? | Q33762894 | ||
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study | Q33905363 | ||
GJB2 mutations and degree of hearing loss: a multicenter study | Q34137503 | ||
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness | Q35442102 | ||
Systematic review of the etiology of bilateral sensorineural hearing loss in children. | Q35859305 | ||
Sensorineural hearing loss in children. | Q36064087 | ||
A genetic approach to the child with sensorineural hearing loss | Q36237448 | ||
Congenital cytomegalovirus (CMV) infection and hearing deficit | Q36357217 | ||
Newborn hearing screening--a silent revolution | Q36481413 | ||
Diagnosis of congenital CMV infection via dried blood spots. | Q36605124 | ||
Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study | Q36750412 | ||
Children with cochlear implants and complex needs: a review of outcome research and psychological practice | Q36817741 | ||
Congenital cytomegalovirus (CMV) infection as a cause of permanent bilateral hearing loss: a quantitative assessment. | Q36981018 | ||
The responsible genes in Japanese deafness patients and clinical application using Invader assay. | Q37119924 | ||
Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance | Q37205162 | ||
Genetics of congenital hearing impairment: a clinical approach | Q37280853 | ||
Genetics of aminoglycoside-induced and prelingual non-syndromic mitochondrial hearing impairment: a review | Q37334174 | ||
Ophthalmologic findings in children with sensorineural hearing loss | Q37394460 | ||
Cochlear implantation in the very young child: Long-term safety and efficacy. | Q37511999 | ||
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene | Q38970459 | ||
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana | Q39042985 | ||
Audiological and genetic features of the mtDNA mutations | Q41908652 | ||
Epidemiology of permanent childhood hearing impairment in Trent Region, 1985-1993. | Q42673075 | ||
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. | Q43073195 | ||
Ophthalmic disturbances in children with sensorineural hearing loss | Q46328526 | ||
P433 | issue | 8 | |
P921 | main subject | cochlear implant | Q724965 |
hearing loss | Q16035842 | ||
P1104 | number of pages | 10 | |
P304 | page(s) | 596-605 | |
P577 | publication date | 2010-08-01 | |
P1433 | published in | International Journal of Audiology | Q80926 |
P1476 | title | Causes of hearing impairment in the Norwegian paediatric cochlear implant program | |
P478 | volume | 49 |
Q50358248 | GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort |
Q38125413 | GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype |
Q50357319 | Hereditary hearing loss: Part 1: diagnostic overview and practical advice |
Q38214755 | Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss. |
Q26773933 | Prevalence of various etiologies of hearing loss among cochlear implant recipients: Systematic review and meta-analysis |
Q50357721 | SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. |
Q28552418 | Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic) |
Q35929073 | The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. |
Search more.