Found: 24
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Hearing impairment in Stickler syndrome: a systematic review.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 84, doi. 10.1186/1750-1172-7-84
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- Publication type:
- Article
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
- Published in:
- 2011
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- Publication type:
- journal article
Cranial ultrasound and MRI: complementary or not in the diagnostic assessment of children with congenital CMV infection?
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 3, p. 911, doi. 10.1007/s00431-021-04273-y
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- Publication type:
- Article
Association between bone mineral density and hearing loss in osteogenesis imperfecta.
- Published in:
- Laryngoscope, 2012, v. 122, n. 2, p. 401, doi. 10.1002/lary.22408
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- Publication type:
- Article
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta.
- Published in:
- Laryngoscope, 2009, v. 119, n. 6, p. 1171, doi. 10.1002/lary.20155
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- Publication type:
- Article
Destructive otomastoiditis by MRSA from porcine origin.
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- Laryngoscope, 2009, v. 119, n. 1, p. 137, doi. 10.1002/lary.20030
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- Publication type:
- Article
Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears.
- Published in:
- 2012
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- Publication type:
- Journal Article
Stapes Surgery in Osteogenesis Imperfecta: Retrospective Analysis of 34 Operated Ears.
- Published in:
- Audiology & Neurotology, 2012, v. 17, n. 3, p. 198, doi. 10.1159/000336211
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- Publication type:
- Article
Multidisciplinary Approach to the Child with Sex Chromosomal Mosaicism Including a Y-Containing Cell Line.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 3, p. 917, doi. 10.3390/ijerph18030917
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- Publication type:
- Article
Twelve years of neonatal hearing screening: audiological and etiological results.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2022, v. 279, n. 7, p. 3371, doi. 10.1007/s00405-021-07060-5
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- Publication type:
- Article
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.
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- European Archives of Oto-Rhino-Laryngology, 2016, v. 273, n. 10, p. 3025, doi. 10.1007/s00405-016-3896-6
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- Publication type:
- Article
Predicting Early Vestibular and Motor Function in Congenital Cytomegalovirus Infection.
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- Laryngoscope, 2023, v. 133, n. 7, p. 1757, doi. 10.1002/lary.30375
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- Publication type:
- Article
AUDIOLOGICAL CHARACTERISTICS OF SOME AFFECTED MEMBERS OF A DUTCH DFNA13/COL/11A2 FAMILY.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2004, v. 113, n. 11, p. 922, doi. 10.1177/000348940411301112
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- Publication type:
- Article
CONGENITAL CONDUCTIVE HEARING LOSS IN DYSCHONDROSTEOSIS.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2003, v. 112, n. 2, p. 153, doi. 10.1177/000348940311200208
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- Publication type:
- Article
LONGITUDINAL AND CROSS-SECTIONAL PHENOTYPE ANALYSIS IN A NEW, LARGE DUTCH DFNA2/KCNQ4 FAMILY.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2002, v. 111, n. 3, p. 267, doi. 10.1177/000348940211100312
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- Publication type:
- Article
Risk Factors for Natural Hearing Evolution in Newborns With Congenital Cytomegalovirus Infection.
- Published in:
- JAMA Otolaryngology-Head & Neck Surgery, 2024, v. 150, n. 1, p. 30, doi. 10.1001/jamaoto.2023.3507
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- Publication type:
- Article
Risk Factors for Hearing Loss at Birth in Newborns With Congenital Cytomegalovirus Infection.
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- JAMA Otolaryngology-Head & Neck Surgery, 2023, v. 149, n. 2, p. 122, doi. 10.1001/jamaoto.2022.4109
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- Publication type:
- Article
Speech Outcome regarding Overall Intelligibility, Articulation, Resonance and Voice in Flemish Children a Year after Pharyngeal Flap Surgery. A Pilot Study.
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- Folia Phoniatrica et Logopaedica, 2008, v. 60, n. 5, p. 223, doi. 10.1159/000151242
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- Publication type:
- Article
KCNQ4 K<sup>+</sup> channels tune mechanoreceptors for normal touch sensation in mouse and man.
- Published in:
- Nature Neuroscience, 2012, v. 15, n. 1, p. 138, doi. 10.1038/nn.2985
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- Publication type:
- Article
CHD7 Disorder—Not CHARGE Syndrome—Presenting as Isolated Cochleovestibular Dysfunction.
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- Genes, 2024, v. 15, n. 5, p. 643, doi. 10.3390/genes15050643
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- Publication type:
- Article
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
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- Genes, 2023, v. 14, n. 1, p. 105, doi. 10.3390/genes14010105
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- Publication type:
- Article
Hearing Loss in Stickler Syndrome: An Update.
- Published in:
- Genes, 2022, v. 13, n. 9, p. 1571, doi. 10.3390/genes13091571
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- Publication type:
- Article
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
- Published in:
- Human Mutation, 2002, v. 20, n. 1, p. 15, doi. 10.1002/humu.10096
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- Publication type:
- Article
Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families.
- Published in:
- Human Mutation, 2001, v. 17, n. 5, p. 433, doi. 10.1002/humu.1123
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- Publication type:
- Article