Carolina Courage

Anna-Elina Lehesjoki 5 collaborations

Mikko Muona 4 collaborations

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Samuel F Berkovic 4 collaborations

Johannes R Lemke 3 collaborations

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Federico Zara 3 collaborations

Karen L Oliver 3 collaborations

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Melanie Bahlo 3 collaborations

Christopher B Jackson 2 collaborations

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Rikke S Møller 2 collaborations

Steffen Syrbe 2 collaborations

Chiara Criscuolo 2 collaborations

None None 2 collaborations

Antonio Gambardella 2 collaborations

Barbara Castellotti 2 collaborations

Patrizia Riguzzi 2 collaborations

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Laura Licchetta 2 collaborations

Paolo Tinuper 2 collaborations

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Affiliations

Publications (13)

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

The Angelman Syndrome Online Registry - A multilingual approach to support global research.

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.

Variants in

Prediction, screening and characterization of novel bioactive tetra-peptide matrikines for skin rejuvenation.

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

Report of the First ONTOX Stakeholder Network Meeting: Digging Under the Surface of ONTOX Together With the Stakeholders.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Réseau de co-auteurs