Federico Grilli - Publications

Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels.

Journal: Italian journal of pediatrics

Published: August 25, 2024

The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.

Journal: Italian journal of pediatrics

Published: December 21, 2023

A long way to syndromic short stature.

Journal: Italian journal of pediatrics

Published: October 18, 2023

CATSHL syndrome, a new family and phenotypic expansion.

Journal: Clinical genetics

Published: September 14, 2023

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Journal: Brain : a journal of neurology

Published: July 17, 2023

Optical coherence tomography angiography findings in Williams-Beuren syndrome.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: July 14, 2023

Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene.

Journal: Neurogenetics

Published: February 02, 2023

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.

Journal: Genes

Published: October 04, 2022

Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.

Journal: Genes & genomics

Published: July 04, 2022

A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.

Journal: Italian journal of pediatrics

Published: November 23, 2020