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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2023
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorderKathleen Rooney, Liselot van der Laan, Slavica Trajkova, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Viruses|March 28, 2026
Did Nirsevimab Shift Pediatric Hospitalizations Due to Lower Respiratory Tract Infections? A Nationwide Italian Study (2024-2025)Paolo Manzoni, Matteo Riccò, Chryssoula Tzialla, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
American Journal of Human Genetics|December 22, 2020
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
Biochemistry and Biophysics Reports|December 16, 2025
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in DrosophilaFranz Müller, Sonja Neuser, Gaurav Shrestha, et al.
American Journal of Medical Genetics. Part A|November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent DysmorphismsAlessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.
European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association for Cardio-Thoracic Surgery|May 18, 2020
Surgery for Bentall endocarditis: short- and midterm outcomes from a multicentre registrySandro Sponga, Michele Di Mauro, Pietro G Malvindi, et al.
American Journal of Hematology|June 6, 2025
Long-Term Outcome of Fanconi Anemia Patients From the Italian Registry on Behalf of the Marrow Failure Study Group of the AIEOP (Italian Association for Pediatric Haematology-Oncology)Erica Ricci, Francesca Bagnasco, Filomena Pierri, et al.
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