Cutis laxa and the Costello syndrome

Natural history, symptoms and treatment of the narcoleptic syndrome.

Acta neurologica Scandinavica·2009

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Clinical genetics·2009

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

Animal genetics·2008

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Cardiology·2008

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

Heart (British Cardiac Society)·2008

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Neurology·2008

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Journal of medical genetics·2026

Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study.

Journal of medical genetics·2026

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Journal of medical genetics·2026

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Journal of medical genetics·2026

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

Journal of medical genetics·2026

Separation of chemical forms of analyte on-site - the right concept of speciation analysis for advanced water monitoring.

Analytical methods : advancing methods and applications·2026

Magnetic core-satellite SERS biosensor for ultrasensitive quantification of squamous cell carcinoma antigen in human serum.

Mikrochimica acta·2026

Simultaneous determination and pharmacokinetic characterization of 4-methyl-N-ethylcathinone and its metabolites in rat whole blood using a LC-MS/MS method.

Journal of pharmaceutical and biomedical analysis·2026

Foundation Models for Liquid Chromatography-High-Resolution Mass Spectrometry: A New Era beyond Labeled Datasets.

Analytical chemistry·2026

Rapid Chiral Analysis of Drugs with Multiple Stereocenters via High-Resolution Ion Mobility.

Analytical chemistry·2026

Green Sensitive Derivative Emission Spectrofluorimetry for the Estimation of Repaglinide and Febuxostat Simultaneously in Dosage Forms and Spiked Human Plasma.

Luminescence : the journal of biological and chemical luminescence·2026

Related Experiment Videos

Cutis laxa and the Costello syndrome

Related Concept Videos

Natural history, symptoms and treatment of the narcoleptic syndrome.

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study.

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

Separation of chemical forms of analyte on-site - the right concept of speciation analysis for advanced water monitoring.

Magnetic core-satellite SERS biosensor for ultrasensitive quantification of squamous cell carcinoma antigen in human serum.

Simultaneous determination and pharmacokinetic characterization of 4-methyl-N-ethylcathinone and its metabolites in rat whole blood using a LC-MS/MS method.

Foundation Models for Liquid Chromatography-High-Resolution Mass Spectrometry: A New Era beyond Labeled Datasets.

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Cutis laxa and the Costello syndrome

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