Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.

Frontiers in genetics·2023

Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.

The British journal of dermatology·2019

Genetic and Environmental Influences on Language Ability in Older Adults: Findings from the Older Australian Twins Study.

Behavior genetics·2018

An epigenome-wide association study meta-analysis of educational attainment.

Molecular psychiatry·2017

A direct test of the diathesis-stress model for depression.

Molecular psychiatry·2017

Subcortical brain structure and suicidal behaviour in major depressive disorder: a meta-analysis from the ENIGMA-MDD working group.

Translational psychiatry·2017

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Journal of medical genetics·2026

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Journal of medical genetics·2026

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Characterization of decidual natural killer cells cell heterogeneity and dynamic evolution in recurrent miscarriage based on single cell RNA-seq analysis.

Integrative biology : quantitative biosciences from nano to macro·2026

Shared Genetic Architecture Between Common Epilepsies and Subcortical Brain Volumes Is Associated With Cognition and Mental Health.

CNS neuroscience & therapeutics·2026

Environmental circadian disruption alters rhythmicity of clock and epigenetic gene expression in SKH-1 female mouse livers.

Chronobiology international·2026

CRISPR screen reveals FTO-mediated m6A modification of ATF3 as protective in ischaemic stroke.

Brain : a journal of neurology·2026

Molecular dynamics simulation and QM/MM study of IscB-ωRNA complex.

The Journal of chemical physics·2026

A trick of the tail: How electrostatics helps a DNA repair enzyme to localize on nucleosomes.

The Journal of chemical physics·2026

Related Experiment Videos

Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII

Related Concept Videos

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.

Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.

Genetic and Environmental Influences on Language Ability in Older Adults: Findings from the Older Australian Twins Study.

An epigenome-wide association study meta-analysis of educational attainment.

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Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

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Characterization of decidual natural killer cells cell heterogeneity and dynamic evolution in recurrent miscarriage based on single cell RNA-seq analysis.

Shared Genetic Architecture Between Common Epilepsies and Subcortical Brain Volumes Is Associated With Cognition and Mental Health.

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Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII

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