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Patient experience in retinitis pigmentosa and Choroideremia- a concept elicitation study in 17 patients based on qualitative interviews.
Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine.
Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.