Associated Papers
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.
Slaba K et al.
Scientific Reports, 2024
Clinical and molecular studies of EXT1/EXT2 in Bulgaria.
Stancheva-Ivanova MK et al.
Journal of Inherited Metabolic Disease, 2011
Evaluation of the anatomic burden of patients with hereditary multiple exostoses.
Alvarez CM et al.
Clinical Orthopaedics and Related Research, 2007
Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels.
Fairclough RJ et al.
The Journal of Investigative Dermatology, 2004
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