Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2

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Related Experiment Videos

Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2

Related Concept Videos

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

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

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

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.

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

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

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

Interaction- and asymmetry-aware facial blendshape analysis for objective quantification of Parkinsonian hypomimia.

80° low-twist nematic liquid crystal viewing angle controller for unidirectional privacy protection of automotive co-driver displays.

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Related Experiment Videos

Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2

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