Antonio Novelli
Sant'Onofrio Square, 4
Rome, Italy
Rome, Italy
Last Updated: 09/26/2026
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Found 431 publications
Hydranencephaly Secondary to Placental Fetal Vascular Malperfusion in a Pregnancy with Extensive Uterine Fibromatosis.
Journal: Fetal and pediatric pathology
Published: July 28, 2026
Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen Individuals.
Journal: Diagnostics (Basel, Switzerland)
Published: April 27, 2026
Interplay of Autoinflammation and Congenital Neutropenia: A Case of Chronic Nonbacterial Osteomyelitis in ELANE Cyclic Neutropenia, Successfully Treated With Anti-TNFα.
Journal: Pediatric blood & cancer
Published: April 24, 2026
Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.
Journal: EBioMedicine
Published: March 17, 2026
Early Clinical and EEG Association of Genotype and Outcome in Genetic Epilepsies: A Cohort Study and Hierarchical Clustering Analysis.
Journal: Neurology
Published: March 12, 2026
First trichogram characterization of hair shaft abnormalities in ichthyosis prematurity syndrome.
Journal: Italian journal of dermatology and venereology
Published: March 10, 2026
European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.
Journal: Frontiers in public health
Published: March 03, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.
Journal: American journal of human genetics
Published: February 26, 2026
Congenital microcephaly with subtle craniofacial dysmorphism because of a novel homozygous asparagine synthetase variant.
Journal: Clinical dysmorphology
Published: February 11, 2026
Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinoma.
Journal: Frontiers in oncology
Published: December 31, 2025
Pediatric high-grade gliomas and cancer predisposition syndromes: A retrospective study.
Journal: HGG advances
Published: December 18, 2025
Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.
Journal: Scientific reports
Published: December 16, 2025
Last Updated: 09/26/2026