IRCCS Fondazione Stella Maris
Research facility
Location:
Marina di Pisa-Tirrenia-Calambrone,
Italy (IT)
ISNI: 0000000417579821
ROR: https://ror.org/02w8ez808
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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024)
Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al.
Journal article
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia (2023)
Alecu JE, Saffari A, Ziegler M, Jordan C, Tam A, Kim S, Leung E, et al.
Journal article
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes (2019)
Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, et al.
Journal article
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018)
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al.
Journal article
Focal cortical dysplasia type IIb in the rolandic cortex: Functional reorganization after early surgery documented by passive task functional MRI (2012)
Barba C, Montanaro D, Frijia F, Giordano F, Blümcke I, Genitori L, De Masi F, Guerrini R
Journal article