The Alagille syndrome (arteriohepatic dysplasia)

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.

Clinical genetics·2003

A family study and the natural history of prenatally detected unilateral multicystic dysplastic kidney.

The Journal of urology·2002

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Nature genetics·2001

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

Journal of medical genetics·2001

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

European journal of human genetics : EJHG·2001

Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment.

Journal of medical genetics·2001

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Epidemiology and Mechanisms of Cervical Spine Injuries Caused by Non-Traditional Vehicles in the United States: An Analysis of National Emergency Department Data.

The spine journal : official journal of the North American Spine Society·2026

Modeling pedestrian-vehicle interaction risk based on risk perception of experienced drivers in autonomous vehicles.

Traffic injury prevention·2026

AHA1 Regulates Aβ Production via Modulation of APP Abundance and γ-Secretase Assembly.

Journal of neurochemistry·2026

Investigating the role of EFhd2 protein in modulating tau pathology in a tauopathy mouse model.

Frontiers in molecular neuroscience·2026

Deriving and validating a new modified two-dimensional surrogate safety measure to investigate driving risk across different passenger vehicle types.

Accident; analysis and prevention·2026

Interpretability study on the response of the seat multi-axis vibration sensitive path to driver vibration comfort.

Ergonomics·2026

Related Experiment Videos

The Alagille syndrome (arteriohepatic dysplasia)

Related Concept Videos

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.

A family study and the natural history of prenatally detected unilateral multicystic dysplastic kidney.

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Epidemiology and Mechanisms of Cervical Spine Injuries Caused by Non-Traditional Vehicles in the United States: An Analysis of National Emergency Department Data.

Modeling pedestrian-vehicle interaction risk based on risk perception of experienced drivers in autonomous vehicles.

AHA1 Regulates Aβ Production via Modulation of APP Abundance and γ-Secretase Assembly.

Investigating the role of EFhd2 protein in modulating tau pathology in a tauopathy mouse model.

Deriving and validating a new modified two-dimensional surrogate safety measure to investigate driving risk across different passenger vehicle types.

Interpretability study on the response of the seat multi-axis vibration sensitive path to driver vibration comfort.

Related Experiment Videos

The Alagille syndrome (arteriohepatic dysplasia)

Related Concept Videos

Related Articles