Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
Source
Journal of medical genetics - ISSN 0022-2593-61:4 (2024) p. 363-368
From diagnosis to treatment in genetic epilepsies : implementation of precision medicine in real-world clinical practice
Source
European journal of paediatric neurology - ISSN 1090-3798-48 (2024) p. 46-60
A homozygous loss of function variant in POPDC3 : from invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
Source
Neuromuscular disorders - ISSN 0960-8966-33:5 (2023) p. 432-439
Negative molecular diagnostics in non-syndromic hearing loss : what next?
Source
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
Source
Otology and neurotology - ISSN 1531-7129-44:4 (2023) p. 360-366