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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
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Management of type 2 diabetes mellitus in older adults : eight case studies with focus SGLT-2 inhibitors and metformin
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- Journal Article
- A1
- open access
Persistent hypercobalaminemia three months after successful gradual attenuation of extrahepatic shunts in dogs: a prospective cohort study
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- Journal Article
- A1
- open access
Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset
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- Miscellaneous
- open access
Editorial : micronutrients : the borderline between their beneficial role and toxicity in plants
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Diagnostic muscle biopsies in the era of genetics : the added value of myopathology in a selection of limb-girdle muscular dystrophy patients
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- Journal Article
- A1
- open access
Approach to the virilizing girl at puberty
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- Journal Article
- A1
- open access
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
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The influence of the genetic background of the host on vitamin D deficiency in children with COVID-19
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Timing of blood sampling for butyrylcholinesterase phenotyping in patients with prolonged neuromuscular block after mivacurium or suxamethonium