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Publications by Marco Castori

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

American Journal of Human Genetics
Genetics
2017English

Molecular Diagnostic Workflow, Clinical Interpretation of Sequence Variants and Data Repository Procedures in 140 Individuals With Familial Cerebral Cavernous Malformations

Human Mutation
Genetics
2019English

Hypermobile Ehlers-Danlos Syndrome (a.k.a. Ehlers-Danlos Syndrome Type III and Ehlers-Danlos Syndrome Hypermobility Type): Clinical Description and Natural History

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Genetics
2017English

A Framework for the Classification of Joint Hypermobility and Related Conditions

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Genetics
2017English

Italian Validation of the Functional Difficulties Questionnaire (FDQ-9) and Its Correlation With Major Determinants of Quality of Life in Adults With Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorder

American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics
PsychiatryMolecular NeuroscienceMental HealthGeneticsCellular
2018English

Head and Neck: Posterior Uveal Melanoma - An Update

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Cancer ResearchOncologyGeneticsHematology
2008English

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