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88 result(s)
Measurement of Achilles tendon thickness using ultrasonography for diagnosis and risk assessment in patients with familial hypercholesterolemia
Open Access Review 23 Apr 2025
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Exploring new therapeutics for Duchenne muscular dystrophy and related cardiomyopathy
Open Access Review 2 Apr 2025
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Rare diseases clinical trials toolbox - public resources and main considerations to set up a clinical trial on medicinal products for humans in Europe
Open Access Original Article 20 Mar 2025
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The novel SCD MED ALERT mHealth app: empowering patients with sickle cell disease
Open Access Original Article 17 Mar 2025
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Lymphedema and erysipelas in patients with classic Fabry disease: a retrospective case series
Open Access Original Article 11 Mar 2025
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The necessity for skeletal muscle contractile assays to assess treatment efficacy in DMD
Open Access Review 4 Mar 2025
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Organellar crosstalk as a potential therapeutic target for rare neurodegenerative diseases
Open Access Review 27 Feb 2025
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Long-term impact of corticosteroid therapy on adult height in juvenile myasthenia gravis patients: a retrospective multicenter cohort study
Open Access Original Article 25 Feb 2025
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Fabry disease in women: beyond the role of “carriers”
Open Access Review 24 Feb 2025
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Electroencephalogram (EEG) network-level excitation-inhibition in GRIN2B-related neurodevelopmental disorders: a pilot case-control series
Open Access Original Article 9 Jan 2025
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The genotype and phenotype correlation of Prader-Willi syndrome
Open Access Review 26 Nov 2024
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