EDS ECHO Event Series: Rarer Types of Ehlers-Danlos Syndromes

Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

2017 EDS International Classification

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14 : expansion of the clinical and mutational spectrum and description of the natural history

Reconstruction of the respiratory signal through ECG and wrist accelerometer data

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1 SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

Membrane Sphingolipids Regulate the Fitness and Antifungal Protein Susceptibility of Neurospora crassa

PEDIA: prioritization of exome data by image analysis - Genetics in Medicine