Giulia Pascolini

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 23

Top Topics

Multidrug Resistant

Intellectual Disability

Congenital Heart Disease

Total Knee Arthroplasty

Top Venues

American journal of medical genetics. Part A

Clinical genetics

The Journal of dermatology

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Giulia Pascolini, Martina Lipari, Federica Gaudioso, Luca Fania, Giovanni Di Zenzo, Biagio Didona
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population. Molecular genetics & genomic medicine 12 (8) (2024)
Giulia Pascolini, Giovanni Di Zenzo, Annarita Panebianco, Biagio Didona, Illana Gozes
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series. American journal of medical genetics. Part A 194 (5) (2024)
Maria Gnazzo, Giulia Pascolini, Giovanni Parlapiano, Francesco Petrizzelli, Daniele Perrino, Luigina Porco, Andrea Bartuli, Antonio Novelli, Anwar Baban
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant. Clinical genetics 106 (1) (2024)
Giulia Pascolini, Giovanni Di Zenzo, Annarita Panebianco, Biagio Didona, Illana Gozes
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series. American journal of medical genetics. Part A 194 (5) (2024)
Giulia Pascolini, Giovanni Di Zenzo, Annarita Panebianco, Biagio Didona, Illana Gozes
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series. American journal of medical genetics. Part A (2024)
Giulia Pascolini, Martina Lipari, Federica Gaudioso, Luca Fania, Giovanni Di Zenzo, Biagio Didona
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population. Molecular genetics & genomic medicine 12 (8) (2024)
Maria Gnazzo, Giulia Pascolini, Giovanni Parlapiano, Francesco Petrizzelli, Daniele Perrino, Luigina Porco, Andrea Bartuli, Antonio Novelli, Anwar Baban
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant. Clinical genetics (2024)
Giulia Pascolini, Giovanni Di Zenzo, Annarita Panebianco, Biagio Didona, Illana Gozes
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series. American journal of medical genetics. Part A 194 (5) (2024)
Giulia Pascolini, Giovanni Di Zenzo, Paolo Morani, Biagio Didona, Annarita Panebianco
Ectoderm-derived findings in Aymè-Gripp syndrome. The Journal of dermatology (2023)
Giulia Pascolini, Giovanni Di Zenzo, Paolo Morani, Biagio Didona, Annarita Panebianco
Ectoderm-derived findings in Aymè-Gripp syndrome. The Journal of dermatology 51 (5) (2023)
Giulia Pascolini, Federica Gaudioso, Marina Baldi, Dario Alario, Francesco Dituri, Antonio Novelli, Anwar Baban
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood. Journal of human genetics (2023)
Giulia Pascolini, Giovanni Di Zenzo, Paolo Morani, Biagio Didona, Annarita Panebianco
Ectoderm-derived findings in Aymè-Gripp syndrome. The Journal of dermatology 51 (5) (2023)
Giulia Pascolini, Maria Gnazzo, Antonio Novelli, Paola Grammatico
Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance. American journal of medical genetics. Part A 188 (5) (2022)
Giulia Pascolini, Mauro Calvani, Paola Grammatico
First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromes. Italian journal of pediatrics 48 (1) (2022)
Giulia Pascolini
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant. Congenital anomalies 61 (5) (2021)
Giulia Pascolini, Federica Gaudioso, Chiara Passarelli, Antonio Novelli, Niccolò Di Giosaffatte, Silvia Majore, Paola Grammatico
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation. Journal of molecular neuroscience : MN 71 (12) (2021)
Silvia Majore, Emanuele Agolini, Lucia Micale, Giulia Pascolini, Paolo Zuppi, Dario Cocciadiferro, Silvia Morlino, Matteo Mattiuzzo, Michele Valiante, Marco Castori, Antonio Novelli, Paola Grammatico
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome. Clinical genetics 99 (4) (2021)
Giulia Pascolini, Chiara Passarelli, Martina Lipari, Balasubramanian Chandramouli, Giovanni Chillemi, Niccolo' Di Giosaffatte, Antonio Novelli, Paola Grammatico
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB. Clinical genetics 101 (3) (2021)
Giulia Pascolini, Emanuele Agolini, Nicole Fleischer, Rosella Pierantoni, Sara Loddo, Antonio Novelli, Laura Bernardini, Silvia Majore, Paola Grammatico
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 41 (12) (2020)
Giulia Pascolini, Emanuele Agolini, Nicole Fleischer, Elisa Gulotta, Claudia Cesario, Gemma D'Elia, Antonio Novelli, Silvia Majore, Paola Grammatico
A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations. American journal of medical genetics. Part A 182 (7) (2020)
Giulia Pascolini, Emanuele Agolini, Antonio Novelli, Silvia Majore, Paola Grammatico
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype. Clinical genetics 97 (4) (2020)
Giulia Pascolini, Federica Gaudioso, Maria Teresa Fadda, Luigi Laino, Alessandro Ferraris, Paola Grammatico
Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry. American journal of medical genetics. Part A 185 (3) (2020)
Giulia Pascolini, Nicole Fleischer, Alessandro Ferraris, Silvia Majore, Paola Grammatico
The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers. Journal of human genetics 64 (8) (2019)