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A homozygous loss of function variant in POPDC3 : from invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
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Genes - ISSN 2073-4425-14:1 (2023) p. 1-15
Targeted next-generation sequencing in children with bilateral sensorineural hearing loss : diagnostic yield and predictors of a genetic cause
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Otology and neurotology - ISSN 1531-7129-44:4 (2023) p. 360-366