Development and validation of the Klinefelter-Associated Neurodevelopmental Difficulties (KAND) Checklist : a three-phase mixed-methods study
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Journal of neurodevelopmental disorders - ISSN 1866-1947-18:1 (2026) p. 1-16
Epilepsy phenotypes of Renu syndrome : novel insights from a European multicentre retrospective cohort study
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Seizure: European journal of epilepsy - ISSN 1059-1311-135 (2026) p. 46-55
Multidisciplinary management of paradoxical vocal fold movement in infants : a case series and literature review
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International journal of pediatric otorhinolaryngology - ISSN 0165-5876-199 (2025) p. 1-8
A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin : a case study
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Clinical epigenetics - ISSN 1868-7075-17:1 (2025) p. 1-12
Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia
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Molecular genetics and metabolism - ISSN 1096-7192-146:3 (2025) p. 1-8