Macrocephaly? Do not forget SUFU
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Pediatric neurology - ISSN 0887-8994-151 (2024) p. 34-36
Interorganisational collaboration to improve accessibility of diagnostic evaluations for children with a developmental disability
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Health Services Insights - ISSN 1178-6329-17 (2024) p. 1-10
Diagnostic work-up in malformations of cortical development
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Developmental medicine and child neurology - ISSN 0012-1622- (2024) p.
From diagnosis to treatment in genetic epilepsies : implementation of precision medicine in real-world clinical practice
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European journal of paediatric neurology - ISSN 1090-3798-48 (2024) p. 46-60
Targeted genomic sequencing of TSC1 and TSC2 reveals causal variants in individuals for whom previous genetic testing for tuberous sclerosis complex was normal
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Human mutation - ISSN 1059-7794-2023 (2023) p. 1-18