Search details
1.
Twelve years of neonatal hearing screening: audiological and etiological results.
Eur Arch Otorhinolaryngol
; 279(7): 3371-3378, 2022 Jul.
Article
in English
| MEDLINE | ID: mdl-34463816
2.
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Genet Med
; 21(5): 1199-1208, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30287925
3.
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.
Eur Arch Otorhinolaryngol
; 273(10): 3025-34, 2016 Oct.
Article
in English
| MEDLINE | ID: mdl-26786361
4.
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
Mol Genet Metab
; 113(3): 230-5, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25240749
5.
Risk Factors for Hearing Loss at Birth in Newborns With Congenital Cytomegalovirus Infection.
JAMA Otolaryngol Head Neck Surg
; 149(2): 122-130, 2023 02 01.
Article
in English
| MEDLINE | ID: mdl-36580312
6.
Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears.
Audiol Neurootol
; 17(3): 198-206, 2012.
Article
in English
| MEDLINE | ID: mdl-22399015
7.
Hearing Loss in Stickler Syndrome: An Update.
Genes (Basel)
; 13(9)2022 09 01.
Article
in English
| MEDLINE | ID: mdl-36140739
8.
Congenital Unilateral Hearing Loss: Characteristics and Etiological Analysis in 121 Patients.
Otol Neurotol
; 42(9): 1375-1381, 2021 10 01.
Article
in English
| MEDLINE | ID: mdl-34172660
9.
Speech outcome regarding overall intelligibility, articulation, resonance and voice in Flemish children a year after pharyngeal flap surgery. A pilot study.
Folia Phoniatr Logop
; 60(5): 223-32, 2008.
Article
in English
| MEDLINE | ID: mdl-18698142
10.
The phenotype of the first otosclerosis family linked to OTSC5.
Otol Neurotol
; 27(3): 308-15, 2006 Apr.
Article
in English
| MEDLINE | ID: mdl-16639267
11.
Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance.
J Craniomaxillofac Surg
; 44(7): 848-53, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-27193475
12.
Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.
Otol Neurotol
; 26(5): 926-33, 2005 Sep.
Article
in English
| MEDLINE | ID: mdl-16151339
13.
Etiological approach in patients with unidentified hearing loss.
Int J Pediatr Otorhinolaryngol
; 79(2): 216-22, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25555640
14.
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
Hum Mutat
; 20(1): 15-9, 2002 Jul.
Article
in English
| MEDLINE | ID: mdl-12112653
15.
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.
Arch Otolaryngol Head Neck Surg
; 130(3): 281-8, 2004 Mar.
Article
in English
| MEDLINE | ID: mdl-15023833
16.
Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family.
Ann Otol Rhinol Laryngol
; 113(11): 922-9, 2004 Nov.
Article
in English
| MEDLINE | ID: mdl-15562903
17.
Congenital conductive hearing loss in dyschondrosteosis.
Ann Otol Rhinol Laryngol
; 112(2): 153-8, 2003 Feb.
Article
in English
| MEDLINE | ID: mdl-12597288
18.
Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.
Ann Otol Rhinol Laryngol
; 111(3 Pt 1): 267-74, 2002 Mar.
Article
in English
| MEDLINE | ID: mdl-11915881
19.
Further delineation of the DFNA5 phenotype: results of speech recognition tests.
Ann Otol Rhinol Laryngol
; 111(7 Pt 1): 639-41, 2002 Jul.
Article
in English
| MEDLINE | ID: mdl-12126021
20.
Stickler syndrome type I and Stapes ankylosis.
Int J Pediatr Otorhinolaryngol
; 68(12): 1573-80, 2004 Dec.
Article
in English
| MEDLINE | ID: mdl-15533574