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European Journal of Human Genetics (11)
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Showing 1–26 of 26 results

Advanced filters: Author: Erik Fransen Clear advanced filters

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

Lieve Vits
Guy Van Camp
Patrick J. Willems
Research01 Jul 1994
Nature Genetics

Volume: 7, P: 408-413
Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease

Shin-ichi Usami
Kentaro Takahashi
Guy Van Camp
Research26 Sept 2003
European Journal of Human Genetics

Volume: 11, P: 744-748
The influence of endurance exercise training on myocardial fibrosis and arrhythmogenesis in a coxsackievirus B3 myocarditis mouse model

Kasper Favere
Manon Van Hecke
Hein Heidbuchel
ResearchOpen Access02 Jun 2024
Scientific Reports

Volume: 14, P: 1-19
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Albena Jordanova and colleagues report mutations in HINT1 in autosomal recessive axonal neuropathy with neuromyotonia. Using linkage analysis and whole-genome sequencing, they identify 8 mutations in 33 affected families.

Magdalena Zimoń
Jonathan Baets
Albena Jordanova
Research09 Sept 2012
Nature Genetics

Volume: 44, P: 1080-1083
Graded persistent activity in entorhinal cortex neurons

Alexei V. Egorov
Bassam N. Hamam
Angel A. Alonso
Research14 Nov 2002
Nature

Volume: 420, P: 173-178
Developmental disruption and restoration of brain synaptome architecture in the murine Pax6 neurodevelopmental disease model

Brain-wide mapping of synapse molecular composition in Pax6 mutant mice shows remodelling and restoration of synaptome architecture during development, a possible means of conferring resilience to genetic disorders.

Laura Tomas-Roca
Zhen Qiu
Seth G. N. Grant
ResearchOpen Access11 Nov 2022
Nature Communications

Volume: 13, P: 1-13
Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations

Annelies Konings
Lut Van Laer
Guy Van Camp
Research24 Sept 2008
European Journal of Human Genetics

Volume: 17, P: 329-335
Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami

Jeroen R Huyghe
Erik Fransen
Guy Van Camp
Research25 Nov 2009
European Journal of Human Genetics

Volume: 18, P: 569-574
A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies

Jeroen R Huyghe
Erik Fransen
Guy Van Camp
Research08 Dec 2010
European Journal of Human Genetics

Volume: 19, P: 347-352
Dysfunctional vestibular system causes a blood pressure drop in astronauts returning from space

Emma Hallgren
Pierre-François Migeotte
Floris L. Wuyts
ResearchOpen Access16 Dec 2015
Scientific Reports

Volume: 5, P: 1-8
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment

Erik Fransen
Sarah Bonneux
Rick A Friedman
Research18 Jun 2014
European Journal of Human Genetics

Volume: 23, P: 110-115
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes

Erik Fransen
Hanne Valgaeren
Guy Van Camp
Research19 Mar 2021
European Journal of Human Genetics

Volume: 29, P: 1745-1755
IMPRESS: Improved methylation profiling using restriction enzymes and smMIP sequencing, combined with a new biomarker panel, creating a multi-cancer detection assay

Janah Vandenhoeck
Isabelle Neefs
Ken Op de Beeck
ResearchOpen Access24 Aug 2024
British Journal of Cancer

Volume: 131, P: 1224-1236
Is DFNA5 a susceptibility gene for age-related hearing impairment?

Lut Van Laer
Anita L DeStefano
Clinton T Baldwin
Research03 Dec 2002
European Journal of Human Genetics

Volume: 10, P: 883-886
Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21

Mohamed Ali Mosrati
Isabelle Schrauwen
Saber Masmoudi
Research13 Dec 2012
Journal of Human Genetics

Volume: 58, P: 98-101
Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene

Julie Moyaert
Annick Gilles
Vincent Van Rompaey
ResearchOpen Access02 Jan 2024
Scientific Reports

Volume: 14, P: 1-9
Erratum to: CRASH syndrome: Clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1

Erik Fransen
Vance Lemmon
Patrick J. Willems
Amendments and Corrections01 Mar 1996
European Journal of Human Genetics

Volume: 4, P: 126
Ocular counter-roll is less affected in experienced versus novice space crew after long-duration spaceflight

Catho Schoenmaekers
Chloë De Laet
Floris L. Wuyts
ResearchOpen Access20 Jul 2022
npj Microgravity

Volume: 8, P: 1-11
A novel serine protease inhibitor as potential treatment for dry eye syndrome and ocular inflammation

Cedric Joossen
Adrienn Baán
Paul Cos
ResearchOpen Access14 Oct 2020
Scientific Reports

Volume: 10, P: 1-14
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment

Andries Paul Nagtegaal
Linda Broer
André Goedegebure
ResearchOpen Access23 Oct 2019
Scientific Reports

Volume: 9, P: 1-10
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Isabelle Schrauwen
Hanne Valgaeren
Hans van Bokhoven
Research05 Oct 2018
Genetics in Medicine

Volume: 21, P: 1199-1208
Ultrasound-assisted extraction optimization and validation of an HPLC-DAD method for the quantification of polyphenols in leaf extracts of Cecropia species

Andrés Rivera-Mondragón
Géraldine Broeckx
Kenn Foubert
ResearchOpen Access14 Feb 2019
Scientific Reports

Volume: 9, P: 1-16
A genome-wide association study for age-related hearing impairment in the Saami

Lut Van Laer
Jeroen R Huyghe
Guy Van Camp
Research13 Jan 2010
European Journal of Human Genetics

Volume: 18, P: 685-693
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Nele Hilgert
Matthew J Huentelman
Guy Van Camp
Research05 Nov 2008
European Journal of Human Genetics

Volume: 17, P: 517-524
Interaction between isoprene and ozone fluxes in a poplar plantation and its impact on air quality at the European level

Terenzio Zenone
Carlijn Hendriks
Reinhart Ceulemans
ResearchOpen Access12 Sept 2016
Scientific Reports

Volume: 6, P: 1-9
CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1

Erik Fransen
Vance Lemmon
Patrick J. Willems
Reviews01 Sept 1995
European Journal of Human Genetics

Volume: 3, P: 273-284

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MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease

The influence of endurance exercise training on myocardial fibrosis and arrhythmogenesis in a coxsackievirus B3 myocarditis mouse model

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Graded persistent activity in entorhinal cortex neurons

Developmental disruption and restoration of brain synaptome architecture in the murine Pax6 neurodevelopmental disease model

Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations

Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami

A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies

Dysfunctional vestibular system causes a blood pressure drop in astronauts returning from space

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment

Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes

IMPRESS: Improved methylation profiling using restriction enzymes and smMIP sequencing, combined with a new biomarker panel, creating a multi-cancer detection assay

Is DFNA5 a susceptibility gene for age-related hearing impairment?

Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21

Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene

Erratum to: CRASH syndrome: Clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1

Ocular counter-roll is less affected in experienced versus novice space crew after long-duration spaceflight

A novel serine protease inhibitor as potential treatment for dry eye syndrome and ocular inflammation

Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment

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

Ultrasound-assisted extraction optimization and validation of an HPLC-DAD method for the quantification of polyphenols in leaf extracts of Cecropia species

A genome-wide association study for age-related hearing impairment in the Saami

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Interaction between isoprene and ozone fluxes in a poplar plantation and its impact on air quality at the European level

CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1

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