Fabienne Giuliano
Nice, France
Last Updated: 09/26/2026
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Found 54 publications
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Journal: Scientific reports
Published: December 20, 2023
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
Journal: Journal of medical genetics
Published: April 01, 2023
Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
Journal: Fetal diagnosis and therapy
Published: January 20, 2023
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency.
Journal: Neuropediatrics
Published: December 28, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Journal: American journal of medical genetics. Part A
Published: May 16, 2022
Challenges in Treating Genodermatoses: New Therapies at the Horizon.
Journal: Frontiers in pharmacology
Published: July 24, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Journal: European journal of human genetics : EJHG
Published: April 01, 2021
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Journal: American journal of medical genetics. Part A
Published: February 23, 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Journal: Clinical genetics
Published: September 18, 2020
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.
Journal: Pigment cell & melanoma research
Published: April 06, 2020
Last Updated: 09/26/2026