Fabiana Cortellessa

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities

Silvia Guerrera, Ilaria Venezia, Maria Grazia Logrieco, Laura Casula et autres

it, us, mn (code pays fourni par la source)

TEMPORARY REMOVAL: Molecular and clinical Insights into KMT2E-Related O’Donnell-Luria-Rodan syndrome in a novel patient cohort

Davide Vecchio, Filippo Maria Panfili, Marina Macchiaiolo, Maria Lisa Dentici et autres

it (code pays fourni par la source)

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis

Davide Vecchio, Marina Macchiaiolo, Michaela Veronika Gonfiantini, Filippo Maria Panfili et autres

it, be, pt, in (code pays fourni par la source)

Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report

Filippo Maria Panfili, Paola Valente, Andrea Ficari, Fabiana Cortellessa et autres

it (code pays fourni par la source)

High-Grade Gliomas and Cancer Predisposition Syndromes in children and adolescents: Unpacking the Impact through a Single-Center Analysis

Angela Mastronuzzi, Giada Del Baldo, Claudio Montante, Selene Cipri et autres

it, us (code pays fourni par la source)

Behavioral profiling in children and adolescents with Malan syndrome

Paolo Alfieri, Federica Alice Maria Montanaro, Marina Macchiaiolo, Martina Collotta et autres

it (code pays fourni par la source)

Ligneous conjunctivitis and use of human plasminogen eyedrops: The Italian experience

Maria Teresa Sartori, Andrea Bartuli, Simona Maria Siboni, Andrea Leonardi et autres

it (code pays fourni par la source)

Expanding phenotype of FAM111B ‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym

Marina Macchiaiolo, Filippo Maria Panfili, Davide Vecchio, Fabiana Cortellessa et autres

it (code pays fourni par la source)

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome

Paolo Alfieri, Marina Macchiaiolo, Martina Collotta, Federica Alice Maria Montanaro et autres

it (code pays fourni par la source)

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

Marina Macchiaiolo, Filippo Maria Panfili, Davide Vecchio, Michaela Veronika Gonfiantini et autres

it (code pays fourni par la source)

Molecular tools for the genomic assessment of oocyte’s reproductive competence

Ludovica Picchetta, Silvia Caroselli, Matteo Figliuzzi, Francesco Cogo et autres

it (code pays fourni par la source)

Nuove tecniche diagnostiche in genetica medica: vantaggi, limiti, caveat e consulenza genetica

Lorenzo Sinibaldi, Fabiana Cortellessa