Research Explorer

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Researcher

Els De Leenheer

Awards & Distinctions

101 Results

2024

Risk factors for cCMV-related hearing loss

Frederic AckeAnnelies KeymeulenEls De LeenheerHelen Van HoeckeAn BoudewynsAnnick GillesMarie MuylleRudolf KuhweideLiestbeth RoyackersChristian Desloovere et al.

Risk factors for natural hearing evolution in newborns with congenital cytomegalovirus infection

Elise De CuyperFrederic AckeAnnelies KeymeulenEls De LeenheerHelen Van HoeckeElizaveta PadalkoAn BoudewynsAnnick GillesMarie MuylleRudolf Kuhweide et al.

A1 Journal Article in JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY

2023

Negative molecular diagnostics in non-syndromic hearing loss : what next?

Thomas ClaboutLaurence MaesFrederic AckeWim WuytsKristof Van SchilPaul CouckeSandra JanssensEls De Leenheer

A1 Journal Article in GENES

Predicting early vestibular and motor function in congenital cytomegalovirus infection

Cleo DhondtLeen MaesSarie MartensSaartje VanaudenaerdeLOTTE ROMBAUTMarieke SucaetAnnelies KeymeulenHelen Van HoeckeEls De LeenheerIngeborg Dhooge

A1 Journal Article in LARYNGOSCOPE

Risk Factors for Natural Hearing Evolution in Newborns with Congenital Cytomegalovirus Infection (cCMV)

Frederic AckeAnnelies KeymeulenEls De LeenheerHelen Van HoeckeElizaveta PadalkoAn BoudewynsAnnick GillesMarie MuylleRudolf KuhweideLiesbeth Royackers et al.

Risk Factors for hearing loss at birth in newborns with congenital cytomegalovirus infection

Elise De CuyperFrederic AckeAnnelies KeymeulenEls De LeenheerHelen Van HoeckeElizaveta PadalkoAn BoudewynsAnnick GillesMarie MuylleRudolf Kuhweide et al.

A1 Journal Article in JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY

Risk factors determining natural hearing evolution in children with congenital cytomegalovirus infection

Elise De CuyperFrederic AckeAnnelies KeymeulenEls De LeenheerHelen Van HoeckeElizaveta PadalkoAn BoudewynsAnnick GillesMarie MuylleRudolf Kuhweide et al.

Risk factors determining natural hearing evolution in children with congenital cytomegalovirus infection

Elise De CuyperFrederic AckeAnnelies KeymeulenEls De LeenheerHelen Van HoeckeElizaveta PadalkoAn BoudewynsAnnick GillesMarie MuylleRudolf Kuhweide et al.

Risk factors for hearing loss at birth in newborns with congenital cytomegalovirus infection (cCMV)

Elise De CuyperFrederic AckeAnnelies KeymeulenEls De LeenheerHelen Van HoeckeElizaveta PadalkoAn BoudewynsAnnick GillesMarie MuylleRudolf Kuhweide et al.

Vestibular function in women with Turner syndrome : a pilot study

Ruth Van HeckeVera VerbestelPatrick CaldersEls De LeenheerLeen Maes

Vestibular infant screening–Flanders : what is the most appropriate vestibular screening tool in hearing-impaired children?

Sarie MartensLeen MaesCleo DhondtSaartje VanaudenaerdeMarieke SucaetEls De LeenheerHelen Van HoeckeRuth Van HeckeLOTTE ROMBAUTIngeborg Dhooge

A1 Journal Article in EAR AND HEARING

2022

A 5-year prospective study of vestibular loss in children with congenital cytomegalovirus infection

Cleo DhondtLeen MaesSarie MartensSaartje VanaudenaerdeLotte RombautHelen Van HoeckeEls De LeenheerIngeborg Dhooge

Congenital Cytomegalovirus infection in Flanders : demography, management and outcome

Annelies KeymeulenKoenraad SmetsEls De Leenheer

Cranial ultrasound and MRI : complementary or not in the diagnostic assessment of children with congenital CMV infection?

Annelies KeymeulenEls De LeenheerAlexandra CasaerVeerle CosseyNele HerregodsSabine LarocheLudo MahieuChristine Van MolSophie VanhaesebrouckCAROLINE VANDE WALLE et al.

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

Hearing loss in stickler syndrome : an update

Frederic AckeEls De Leenheer

A1 Journal Article in GENES

Long-term anatomic and functional outcome of pediatric myringoplasty in primary and revision cases

Lien DeschuytereHelen Van HoeckeEls De LeenheerDavid LooseIngeborg Dhooge

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Predicting the occurrence and functional impact of early vestibular loss in congenital cytomegalovirus infection

Cleo DhondtSarie MartensMarieke SucaetSaartje VanaudenaerdeLotte RombautAnnelies KeymeulenEls De LeenheerHelen Van HoeckeLeen MaesIngeborg Dhooge

Predicting the occurrence and functional impact of early vestibular loss in congenital cytomegalovirus infection

Cleo DhondtSarie MartensMarieke SucaetSaartje VanaudenaerdeLOTTE ROMBAUTEls De LeenheerHelen Van HoeckeLeen MaesIngeborg Dhooge

Three years of vestibular infant screening in infants with sensorineural hearing loss

Sarie MartensIngeborg DhoogeCleo DhondtSaartje VanaudenaerdeMarieke SucaetHelen Van HoeckeEls De LeenheerLotte RombautAn BoudewynsChristian Desloovere et al.

A1 Journal Article in PEDIATRICS

Twelve years of neonatal hearing screening : audiological and etiological results

Frederic AckeCasper De VrieseHelen Van HoeckeEls De Leenheer

A1 Journal Article in EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

2021

Congenital CMV-associated hearing loss : can brain imaging predict hearing outcome?

Laura CraeghsJULIE GODERISFrederic AckeAnnelies KeymeulenKoenraad SmetsHelen Van HoeckeEls De LeenheerAn BoudewynsChristian DesloovereRudolf Kuhweide et al.

A1 Journal Article in EAR AND HEARING

Congenital cytomegalovirus infection registry in Flanders : opportunities and pitfalls

Annelies KeymeulenEls De LeenheerJulie GoderisIngeborg DhoogeKoenraad Smetsthe Flemish Society of Pediatrics' Neonatology and Perinatal Epidemiology Working group for cCMV infection

A1 Journal Article in ACTA CLINICA BELGICA

Congenital unilateral hearing loss : characteristics and etiological analysis in 121 patients

Frederic AckeHelen Van HoeckeEls De Leenheer

A1 Journal Article in OTOLOGY & NEUROTOLOGY

Multidisciplinary approach to the child with sex chromosomal mosaicism including a Y-containing cell line

Bauke DeboMarlies Van LoockeKatya De GrooteEls De LeenheerMartine Cools

A1 Journal Article in INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH

Results of a multicenter registry for congenital cytomegalovirus infection in Flanders, Belgium : from prenatal diagnosis over neonatal management to therapy

Annelies KeymeulenEls De LeenheerAlexandra CasaerVeerle CosseySabine LarocheLudo MahieuChristine Van MolIngeborg DhoogeKoenraad Smets

A1 Journal Article in EARLY HUMAN DEVELOPMENT

The impact of cochlear implantation on vestibular function in children

Ingeborg DhoogeLeen MaesSarie MartensSaartje VanaudenaerdeLotte RombautHelen Van HoeckeEls De LeenheerCleo Dhondt

Vestibular function in children with a congenital cytomegalovirus infection : 3 years of follow-up

Cleo DhondtLeen MaesLotte RombautSarie MartensSaartje VanaudenaerdeHelen Van HoeckeEls De LeenheerIngeborg Dhooge

A1 Journal Article in EAR AND HEARING

Vestibular function in children with congenital cytomegalovirus infection : 3 years of follow-up

Cleo DhondtIngeborg DhoogeSarie MartensLotte RombautSaartje VanaudenaerdeHelen Van HoeckeEls De LeenheerLeen Maes

2020

Vestibular function in children with a congenital cytomegalovirus infection : 3 years of follow-up

Cleo DhondtLeen MaesSarie MartensLotte RombautSaartje VanaudenaerdeHelen Van HoeckeEls De LeenheerIngeborg Dhooge

2019

Atypical clinical and novel radiological findings in Susac syndrome

Zoë DelaruelleAlexander VanhoorneJulie De ZaeytijdEls De LeenheerVeroniek Van DriesscheGuy LaureysDimitri Hemelsoet

Congenital cytomegalovirus-associated hearing loss : can brain imaging predict hearing outcome?

Ingeborg DhoogeAnnelies KeymeulenEls De LeenheerHelen Van HoeckeCleo DhondtFrederic AckeLaura Craeghs

Ear- and hearing-related impact on quality of life in children with cleft palate : development and pretest of a health-related quality of life (HRQOL) instrument

Justine De PaepeFrederick DochySara WillemsHelen Van HoeckeEls De Leenheer

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Effect of MRI on distortion product otoacoustic emissions in neonates : a pilot study

Hannah KepplerSofie DegeestBart VinckEls De LeenheerKoenraad SmetsKris De Coen

The impact of cleft lip and/or palate on parental quality of life : a pilot study

Elise De CuyperFrederick DochyEls De LeenheerHelen Van Hoecke

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

The impact of cleft lip and/or palate on parental quality of life : a pilot study

Elise De CuyperFrederick DochyEls De LeenheerHelen Van Hoecke

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Isabelle SchrauwenHanne ValgaerenLaura Tomas-RocaManou SommenUmut AltunogluMieke WesdorpMatthias BeyensErik FransenAbdul NasirGeert Vandeweyer et al.

A1 Journal Article in GENETICS IN MEDICINE

Vestibular function and motor performance in infants with congenital cytomegalovirus infection : a preliminary study

Leen MaesAlexandra De KegelHilde Van WaelveldeEls De LeenheerHelen Van HoeckeJULIE GODERISIngeborg Dhooge

Vestibular function in children with congenital cytomegalovirus infection : results of 2.5 years of follow-up

Cleo DhondtLeen MaesSarie MartensLotte RombautSaartje VanaudenaerdeHelen Van HoeckeEls De LeenheerIngeborg Dhooge

Vestibular function in children with congenital cytomegalovirus infection : results of 2.5 years of follow-up

Cleo DhondtLeen MaesSarie MartensLotte RombautSaartje VanaudenaerdeHelen Van HoeckeEls De LeenheerIngeborg Dhooge

Vestibular function in children with congenital cytomegalovirus infection : results of 2.5 years of follow-up

Cleo DhondtLeen MaesSarie MartensLotte RombautSaartje VanaudenaerdeHelen Van HoeckeEls De LeenheerIngeborg Dhooge

2018

Vestibular function in children with a congenital cytomegalovirus infection : results of two years of follow-up

Cleo DhondtLeen MaesLotte RombautEls De LeenheerHelen Van HoeckeIngeborg Dhooge

Vestibular function in children with congenital cytomegalovirus infection : a two-year follow-up

Cleo DhondtIngeborg DhoogeLotte RombautEls De LeenheerHelen Van HoeckeLeen Maes

2017

Comparison of the motor performance and vestibular function in infants with a congenital cytomegalovirus infection or a connexin 26 mutation : a preliminary study

Leen MaesAlexandra De KegelHilde Van WaelveldeEls De LeenheerHelen Van HoeckeJULIE GODERISIngeborg Dhooge

A1 Journal Article in EAR AND HEARING

2016

Auditory phenotype in Stickler syndrome : results of audiometric analysis in 20 patients

Frederic AckeFreya SwinnenFransiska MalfaitIngeborg DhoogeEls De Leenheer

A1 Journal Article in EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Cephalometrics in Stickler syndrome : objectification of the typical facial appearance

Frederic AckeIngeborg DhoogeFransiska MalfaitEls De LeenheerGuy De Pauw

A1 Journal Article in JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY

Cytokine profile of nasal and middle ear polyps in a patient with Woakes' syndrome and eosinophilic otitis media

MARIE DE LOOFEls De LeenheerGabriële HoltappelsClaus Bachert

A2 Journal Article in BMJ CASE REPORTS

DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

Manou SommenIsabelle SchrauwenGeert VandeweyerNele BoeckxJason J CorneveauxJenneke van den EndeAn BoudewynsEls De LeenheerSandra JanssensKathleen Claes et al.

A1 Journal Article in HUMAN MUTATION

Early motor development of children with a congenital cytomegalovirus infection

Alexandra De KegelLeen MaesIngeborg DhoogeHelen Van HoeckeEls De LeenheerHilde Van Waelvelde

A1 Journal Article in RESEARCH IN DEVELOPMENTAL DISABILITIES

Hearing in children with congenital cytomegalovirus infection: results of a longitudinal study

JULIE GODERISAnnelies KeymeulenKoenraad SmetsHelen Van HoeckeEls De LeenheerAn BoudewynsChristian DesloovereRudolf KuhweideMarie MuylleLiesbeth Royackers et al.

A1 Journal Article in JOURNAL OF PEDIATRICS

Laterality and unilateral deafness : patients with congenital right ear deafness do not develop atypical language dominance

Lise Van der HaegenFrederic AckeGuy VingerhoetsIngeborg DhoogeEls De LeenheerQing CaiMarc Brysbaert

A1 Journal Article in NEUROPSYCHOLOGIA

Motor performance and vestibular function in a congenital cytomegalovirus infection or a connexin 26 mutation

Leen MaesAlexandra De KegelHilde Van WaelveldeEls De LeenheerHelen Van HoeckeIngeborg Dhooge

Stickler syndrome: comprehensive clinical and molecular analysis

Frederic AckePaul CouckeOlivier VanakkerKristien HoornaertGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerFransiska Malfait

2015

Cephalometrics in Stickler syndrome: objectification of the typical facial appearance

Frederic AckeIngeborg DhoogeEls De LeenheerGuy De Pauw

Etiological approach in patients with unidentified hearing loss

Ann DeklerckFrederic AckeSandra JanssensEls De Leenheer

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Further delineation of the auditory phenotype in Stickler syndrome

Frederic AckeFreya SwinnenFransiska MalfaitIngeborg DhoogeEls De Leenheer

Further delineation of the auditory phenotype in Stickler syndrome

Frederic AckeFreya SwinnenFransiska MalfaitIngeborg DhoogeEls De Leenheer

Motor performance and vestibular function in children diagnosed with congenital cytomegalovirus (cCMV) infection or connexin 26 (Cx26) mutation

Leen MaesAlexandra De KegelHilde Van WaelveldeEls De LeenheerHelen Van HoeckeIngeborg Dhooge

Motorische prestatie en vestibulaire functie bij kinderen gediagnostiseerd met een congenitale cytomegalovirus (cCMV) infectie of een connexine 26 (Cx26) mutatie

Leen MaesAlexandra De KegelHilde Van WaelveldeEls De LeenheerHelen Van HoeckeIngeborg Dhooge

Stickler syndrome: otological and orofacial features in distinct genotypes

Frederic AckeEls De LeenheerIngeborg Dhooge

2014

A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome

Linde De KeyzerEls De LeenheerKathleen ClaesSandra Janssens

A1 Journal Article in GENETIC COUNSELING

Aetiologies after newborn hearing screening

Els De LeenheerFrederic AckeHelen Van HoeckeIngeborg Dhooge

Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis

Frederic AckePaul CouckeOlivier VanakkerKristien HoornaertIngeborg DhoogeAnne De PaepeEls De LeenheerFransiska Malfait

Etiological approach in unidentified hearing loss suggestive of a genetic cause

Ann DeklerckFrederic AckeSandra JanssensEls De Leenheer

Hearing loss and congenital CMV infection: a systematic review

JULIE GODERISEls De LeenheerKoenraad SmetsHelen Van HoeckeAnnelies KeymeulenIngeborg Dhooge

A1 Journal Article in PEDIATRICS

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

2013

Audiologic and genetic determination of hearing loss in osteogenesis imperfecta

Freya SwinnenEls De LeenheerPaul CouckeCor CremersIngeborg Dhooge

Hearing impairment in Stickler syndrome: a systematic review

Frederic AckeIngeborg DhoogeFransiska MalfaitEls De Leenheer

Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

Temporal bone imaging in osteogenesis imperfecta patients with hearing loss

Freya SwinnenJan CasselmanEls De LeenheerCor WRJ CremersIngeborg Dhooge

A1 Journal Article in LARYNGOSCOPE

2012

Association between bone mineral density and hearing loss in osteogenesis imperfecta

Freya SwinnenEls De LeenheerStefan GoemaereCor WRJ CremersPaul CouckeIngeborg Dhooge

A1 Journal Article in LARYNGOSCOPE

Audiologic and genetic determination of hearing loss in osteogenesis imperfecta

Freya SwinnenEls De LeenheerPaul CouckeCor CremersIngeborg Dhooge

Audiologic phenotype of osteogenesis imperfecta: use in clinical differentiation

Freya SwinnenIngeborg DhoogePaul CouckePatrizia D'EufemiaFrancesco ZardoTon JTM GarretsenCor WRJ CremersEls De Leenheer

A1 Journal Article in OTOLOGY & NEUROTOLOGY

Audiological and vestibular findings in congenital cytomegalovirus infection: results of a prospective cohort study

JULIE GODERISIngeborg DhoogeMarjon VandeveldeBirgit PhilipsEls De LeenheerHelen Van HoeckeKoenraad SmetsAnnelies Keymeulen

Hearing impairment in Stickler syndrome: a systematic review

Frederic AckeIngeborg DhoogeEls De Leenheer

Hearing impairment in Stickler syndrome: a systematic review

Frederic AckeIngeborg DhoogeFransiska MalfaitEls De Leenheer

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Hearing impairment in children with Stickler syndrome: review of phenotype and correlation with genotype

Frederic AckeIngeborg DhoogeEls De Leenheer

Specific medical and surgical treatment for chronic inflammatory diseases in children

A BoudewynsJ AntunesN BernheimJ ClaesJ De DooyEls De LeenheerK De RoeckP HellingsSJ de VarebekeM Jorissen et al.

A1 Journal Article in B-ENT

Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears

Freya SwinnenEls De LeenheerPaul CouckeCor WRJ CremersIngeborg Dhooge

A1 Journal Article in AUDIOLOGY AND NEURO-OTOLOGY

Temporal bone imaging in osteogenesis imperfecta patients with hearing loss

Freya SwinnenJan CasselmanPaul CouckeCor CremersEls De LeenheerIngeborg Dhooge

2011

Association between bone mineral density and hearing loss in osteogenesis imperfecta

Freya SwinnenEls De LeenheerStefan GoemaereIngeborg Dhooge

Etiological diagnosis in the hearing impaired newborn: proposal of a flow chart

Els De LeenheerSandra JanssensElizaveta PadalkoDelphine LooseBart LeroyIngeborg Dhooge

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

KCNQ4 K⁺ channels tune mechanoreceptors for normal touch sensation in mouse and man

Matthias HeidenreichStefan G LechnerVitya VardanyanChristiane WetzelCor W CremersEls De LeenheerGracia AránguezMiguel Ángel Moreno-PelayoThomas J JentschGary R Lewin

A1 Journal Article in NATURE NEUROSCIENCE

Osteogenesis imperfecta: the audiologic phenotype lacks correlation with the genotype

Freya SwinnenPaul CouckeAnne De PaepeSofie SymoensFransiska MalfaitFilomena GentileLuca SangiorgiPatrizia D'EufemiaTon GarretsenCor Cremers et al.

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Freya SwinnenPaul CouckeAnne De PaepeSofie SymoensFransiska MalfaitFilomena V GentileLuca SangiorgiPatrizia D'EufemiaMauro CelliTon JTM Garretsen et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears

Freya SwinnenEls De LeenheerPaul CouckeCor CremersIngeborg Dhooge

2010

Cochlear implantation in infants deafened by congenital cytomegalovirus

Birgit PhilipsEls De LeenheerIngeborg DhoogeEddy De Vel

A2 Journal Article in COCHLEAR IMPLANTS INTERNATIONAL

2009

Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta

Freya SwinnenEls De LeenheerPaul CouckeCor WRJ CremersIngeborg Dhooge

A1 Journal Article in LARYNGOSCOPE

Cochlear implants in children deafened bij congenital cytomegalovirus

Birgit PhilipsEls De LeenheerIngeborg Dhooge

Cochlear implants in infants deafened by congenital cytomegalovirus

Birgit PhilipsEls De LeenheerEDDY DE VELIngeborg Dhooge

Destructive otomastoiditis by MRSA from porcine origin

Helen Van HoeckeAnne PietteEls De LeenheerNathalie LagasseMarc StruelensGerda VerschraegenIngeborg Dhooge

A1 Journal Article in LARYNGOSCOPE

2008

Audiologic and genetic characterization of hearing loss in Osteogenesis Imperfecta

Freya SwinnenEls De LeenheerStefan GoemaereAnne De PaepeC CREMERSPaul CouckeIngeborg Dhooge

Cochlear implantation in 3 adults with auditory neuropathy/auditory dyssynchrony

Els De LeenheerIngeborg DhoogeE VeuilletG Lina-GranadeE Truy

A1 Journal Article in B-ENT

Management of hearing loss: surgery (incudostapedotomy and malleostapedotomy) and outcome of the procedure

Cor CremersFreya SwinnenEls De LeenheerPaul CouckeIngeborg Dhooge

Speech Outcome regarding Overall Intelligibility, Articulation, Resonance and Voice in Flemish Children a Year after Pharyngeal Flap Surgery

Kristiane Van LierdeKatrien BonteNele BaudonckPaul Van CauwenbergeEls De Leenheer

A1 Journal Article in FOLIA PHONIATRICA ET LOGOPAEDICA

2006

DFNA2/KCNQ4 and its manifestations.

Els De LeenheerRJ ENSINKHP KUNSTHA MARRESZ TALEBIZADEHF DECLAUSD SMITHS USAMIPH VAN DE HEYNINGG VAN CAMP et al.

A2 Journal Article in ADVANCES IN OTO-RHINO-LARYNGOLOGY

2004

A novel mutation identified in the DFNA5 gene in a Dutch family: A clinical and genetic evaluation

AMLC BischoffMWJ LuijendijkPLM HuygenG van DuijnhovenEls De LeenheerGG OudesluijsLut Van LaerFPM CremersCWRJ CremersH Kremer

A1 Journal Article in AUDIOLOGY AND NEURO-OTOLOGY

2002

Clinical features of DFNA5

Els De LeenheerDiederick A. van ZuijlenLut Van LaerGuy Van CampPatrick L.M. HuygenEgbert H. HuizingCor W.R.J. Cremers

Bookchapter in Genetic Hearing Impairment: its clinical presentations

DFNA10/EYA4 - the clinical picture.

Els De LeenheerPL HUYGENS WAYNEM VERSTREKENF DECLAUG VAN CAMPPH VAN DE HEYNINGRJ SMITHCW CREMERS

A2 Journal Article in ADVANCES IN OTO-RHINO-LARYNGOLOGY

Further delineation of the DFNA5 phenotype: Results of speech recognition tests

Els De LeenheerDA VAN ZUIJLENLut Van LaerG VAN CAMPP HUYGENEH HUIZINGC CREMERS

A1 Journal Article in ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

The phenotype of DFNA13/COL11A2.

Els De LeenheerWT MCGUIRTHP KUNSTPL HUYGENRJ SMITHCW CREMERS

A2 Journal Article in ADVANCES IN OTO-RHINO-LARYNGOLOGY

2001

Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families

Zahid H ShahMarina ToompuuTerhi HakkinenAnja T RovioConny van RavenswaayEls De LeenheerRichard JH SmithFrans PM CremersCor WRJ CremersHoward T Jacobs

A2 Journal Article in HUMAN MUTATION