Publications by authors named "Federico Grilli"

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Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels.
Giulia Rodari, Valeria Citterio, Masami Ikehata, Deborah Mattinzoli, Giulietta Scuvera, Federico Grilli

Ital J Pediatr· March 2025

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The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.
Elisabetta Prada, Camilla Meossi, Denise Piras Marafon, Federico Grilli, Giulietta Scuvera

Ital J Pediatr· September 2024

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A long way to syndromic short stature.
Federica Gaudioso, Camilla Meossi, Lidia Pezzani, Federico Grilli, Rosamaria Silipigni

Ital J Pediatr· September 2024

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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Federico Grilli

Brain· May 2024

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Optical coherence tomography angiography findings in Williams-Beuren syndrome.
Marco Nassisi, Claudia Mainetti, Andrea Sperti, Guido Galmozzi, Andrea Aretti, Federico Grilli

Graefes Arch Clin Exp Ophthalmol· April 2024

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CATSHL syndrome, a new family and phenotypic expansion.
Silvia Cannova, Camilla Meossi, Federico Grilli, Donatella Milani, Federica Alberti

Clin Genet· March 2024

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Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene.
Viviana Tritto, Federico Grilli, Donatella Milani, Paola Riva

Neurogenetics· July 2023

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Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Giada Moresco, Ornella Rondinone, Alessia Mauri, Jole Costanza, Carlo Santaniello, Federico Grilli

Genes Genomics· May 2023

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Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.
Paola Castronovo, Sebastiano Aleo, Agostino Seresini, Federico Grilli, Emilio Brunati

Genes (Basel)· November 2022

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A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.
Giada Moresco, Jole Costanza, Carlo Santaniello, Ornella Rondinone, Federico Grilli

Ital J Pediatr· March 2021

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