Works matching DE "GENETICS of deafness"
Results: 538
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria (Communicated by Richard G.H. Cotton) Online Citation: Human Mutation, Mutation in Brief #638 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/638.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9167
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- Article
The 342?kb deletion in GJB6 is not present in patients with non?syndromic hearing loss from AustriaCommunicated by Richard G.H. CottonOnline Citation:Human Mutation, Mutation in Brief #638 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/638.pdf
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- Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9167
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- Article
Seven days: 9-15 March 2012.
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- Nature, 2012, v. 483, n. 7389, p. 250, doi. 10.1038/483250a
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- Article
Nowy typ implantu CochlearTM Osia® OSI200 w Hiszpanii – opis przypadku.
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- 2021
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- Case Study
The genetics of hair-cell function in zebrafish.
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- Journal of Neurogenetics, 2017, v. 31, n. 3, p. 102, doi. 10.1080/01677063.2017.1342246
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- Article
A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.
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- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/5574136
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- Article
Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families.
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- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/8843539
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- Article
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00142
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- Article
Congenital absence of the incus bilaterally without other otologic anomalies: A new case report.
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- ENT: Ear, Nose & Throat Journal, 2002, v. 81, n. 4, p. 274, doi. 10.1177/014556130208100417
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- Article
Congenital sensorineural hearing loss: Mondini's deformity.
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- ENT: Ear, Nose & Throat Journal, 2001, v. 80, n. 4, p. 198, doi. 10.1177/014556130108000405
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- Article
Gilles de la Tourette Syndrome in a child with congenital deafness.
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- European Child & Adolescent Psychiatry, 2001, v. 10, n. 4, p. 256, doi. 10.1007/s007870170015
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- Article
Progressive autosomal dominant optic atrophy and sensorineural hearingloss in a Turkish family.
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- Ophthalmic Genetics, 2002, v. 23, n. 1, p. 029, doi. 10.1076/opge.23.1.29.2208
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- Article
Hypocalcemia not related to chronic kidney disease: Questions.
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- Pediatric Nephrology, 2021, v. 36, n. 10, p. 3103, doi. 10.1007/s00467-021-05029-4
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- Article
SeSAME/EAST syndrome-phenotypic variability and delayed activity of the distal convoluted tubule.
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- Pediatric Nephrology, 2012, v. 27, n. 11, p. 2081, doi. 10.1007/s00467-012-2219-4
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- Article
The research of development of a miniature DNA base editor for DFNB9 gene therapy in hereditary deafness.
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- Journal of Hearing Science, 2024, v. 14, n. 3, p. 142
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- Article
The hidden truth of hereditary hearing loss: gaining insight into the genetic basis of non-syndromic mimics.
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- Journal of Hearing Science, 2024, v. 14, n. 3, p. 118
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- Article
AAV-OTOF gene therapy for autosomal recessive deafness 9: a multicenter, multiage, non-randomized controlled intervention study.
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- Journal of Hearing Science, 2024, v. 14, n. 3, p. 99
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- Article
AAV-mediated precision treatment of SchABE8e in the pou4f3Q113*/+ mouse model.
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- Journal of Hearing Science, 2024, v. 14, n. 3, p. 98
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- Article
Sound localization in babies with SSD.
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- Journal of Hearing Science, 2022, v. 12, n. 1, p. 57
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- Article
POSTLINGUAL SENSORINEURAL HEARING LOSS DUE TO A KNOWN TBC1D24 GENE ALTERATION.
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- Journal of Hearing Science, 2021, v. 11, n. 4, p. 72, doi. 10.17430/JHS.2021.11.4.8
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- Article
Is binaural hearing achievable in subjects with congenital unilateral conductive hearing loss?
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- Journal of Hearing Science, 2018, v. 8, n. 2, p. 236
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- Article
POSTLINGWALNY NIEDOSLUCH ODBIORCZY SPOWODOWANY BARDZO RZADKIM PATOGENNYM WARIANTEM COCH.
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- Journal of Hearing Science, 2018, v. 8, n. 1, p. 31, doi. 10.17430/1002738
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- Article
PREVALENCE OF DFNB1 HEARING LOSS AMONG COCHLEAR IMPLANT USERS ESTABLISHED WITH THE B-STEP DFNB1 APPROACH.
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- Journal of Hearing Science, 2017, v. 7, n. 1, p. 33, doi. 10.17430/903762
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- Article
RESULTS OF COCHLEAR IMPLANTATION IN CHILDREN WITH CONGENITAL CYTOMEGALOVIRUS INFECTION VERSUS GJB2 MUTATION.
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- Journal of Hearing Science, 2015, v. 5, n. 2, p. 36, doi. 10.17430/892963
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- Article
WHEN SHOULD ONE LOOK FOR IVS1+1G>A SPLICE MUTATION IN PATIENTS WITH NONSYNDROMIC SENSORINEURAL HEARING LOSS?
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- Journal of Hearing Science, 2014, v. 4, n. 2, p. 24, doi. 10.17430/891018
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- Article
Hereditary Deafness in a Former Fishing Village on the Dutch Coast.
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- Journal of Deaf Studies & Deaf Education, 2016, v. 21, n. 1, p. 94, doi. 10.1093/deafed/env045
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- Article
Congenitally Deaf Children's Care Trajectories in the Context of Universal Neonatal Hearing Screening: A Qualitative Study of the Parental Experiences.
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- Journal of Deaf Studies & Deaf Education, 2011, v. 16, n. 3, p. 305, doi. 10.1093/deafed/enq055
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- Article
Designing Deaf Babies and the Question of Disability.
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- Journal of Deaf Studies & Deaf Education, 2005, v. 10, n. 3, p. 311, doi. 10.1093/deafed/eni031
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- Article
Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA.
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- Acta Neurologica Scandinavica, 2001, v. 103, n. 3, p. 159, doi. 10.1034/j.1600-0404.2001.103003159.x
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- Article
Newborn hearing screening programme outcomes in a research hospital from Turkey.
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- Child: Care, Health & Development, 2010, v. 36, n. 3, p. 317, doi. 10.1111/j.1365-2214.2009.01029.x
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- Article
Visuo-tactile interactions in the congenitally deaf: a behavioral and event-related potential study.
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- Frontiers in Integrative Neuroscience, 2015, v. 8, p. 1, doi. 10.3389/fnint.2014.00098
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- Article
Cochlear implantation in late childhood and adolescence: is there such a thing as 'too late'?
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- Expert Review of Medical Devices, 2012, v. 9, n. 3, p. 201, doi. 10.1586/erd.12.21
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- Article
Concomitant imaging and genetic findings in children with unilateral sensorineural hearing loss.
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- Journal of Laryngology & Otology, 2017, v. 131, n. 8, p. 688, doi. 10.1017/S0022215117001219
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- Article
Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.
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- Journal of Laryngology & Otology, 2016, v. 130, n. 10, p. 902, doi. 10.1017/S0022215116008689
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- Article
Patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss and endolymphatic hydrops.
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- Journal of Laryngology & Otology, 2015, v. 129, n. 1, p. 95, doi. 10.1017/S0022215114003399
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- Article
Non-syndromic hereditary sensorineural hearing loss: review of the genes involved.
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- Journal of Laryngology & Otology, 2014, v. 128, n. 1, p. 13, doi. 10.1017/S0022215113003265
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- Article
Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey.
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- Journal of Laryngology & Otology, 2013, v. 127, n. 1, p. 33, doi. 10.1017/S0022215112002587
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- Article
Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.
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- Journal of Laryngology & Otology, 2012, v. 126, n. 4, p. 349, doi. 10.1017/S002221511100346X
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- Article
An unfortunate case of Pendred syndrome.
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- Journal of Laryngology & Otology, 2011, v. 125, n. 9, p. 965, doi. 10.1017/S0022215111001630
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- Article
Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran.
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- Journal of Laryngology & Otology, 2011, v. 125, n. 5, p. 455, doi. 10.1017/S0022215110002999
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- Article
Bilateral narrow duplication of the internal auditory canal.
- Published in:
- 2010
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- Publication type:
- Case Study
High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss.
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- Journal of Laryngology & Otology, 2009, v. 123, n. 3, p. 273, doi. 10.1017/S0022215108002892
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- Article
Screening of noise-induced hearing loss (NIHL)-associated SNPs and the assessment of its genetic susceptibility.
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- 2019
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- Publication type:
- journal article
Síndrome de QT largo en pediatría.
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- Revista Mexicana de Pediatria, 2008, v. 75, n. 3, p. 121
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- Article
EVALUATION OF VESTIBULAR AND DYNAMIC VISUAL ACUITY IN ADULTS WITH CONGENITAL DEAFNESS.
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- Perceptual & Motor Skills, 2012, v. 115, n. 2, p. 503, doi. 10.2466/15.06.25.PMS.115.5.503-511
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- Article
A case of maternally inherited diabetes and deafness.
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- Practitioner, 2022, v. 266, n. 1855, p. 23
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- Article
Only got five minutes? Then read these key points first.
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- Practitioner, 2022, v. 266, n. 1855, p. 2
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- Article
Enlarged vestibular aqueduct: looking for genotypic–phenotypic correlations.
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- European Archives of Oto-Rhino-Laryngology, 2006, v. 263, n. 11, p. 971, doi. 10.1007/s00405-006-0095-x
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- Article
Audiometric evaluation of carriers of the connexin 26 mutation 35delG.
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- European Archives of Oto-Rhino-Laryngology, 2005, v. 262, n. 11, p. 921, doi. 10.1007/s00405-005-0918-1
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- Article
A patient database application for Hereditary Deafness Epidemiology and Clinical Research (H.E.A.R.): an effort for standardization in multiple languages.
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- European Archives of Oto-Rhino-Laryngology, 2003, v. 260, n. 2, p. 81, doi. 10.1007/s00405-002-0529-z
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- Article