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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 16, 2026
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current AgentsAlessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti-Pierri
Genes|May 27, 2023
New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 PatientsAlessandro De Falco, Achille Iolascon, Flora Ascione, et al.
Cells|July 12, 2024
Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal EffectAlessandro De Falco, Antonella Gambale, Michele Pinelli, et al.
American Journal of Medical Genetics. Part A|December 20, 2024
Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of CancerAlessandro De Falco, Fabiola De Gregorio, Massimo Eraldo Abate, et al.
Genes|January 26, 2024
First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature ReviewElia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, et al.
Genes|January 21, 2023
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic AnalysisAlessandro De Falco, Daniele De Brasi, Matteo Della Monica, et al.
Clinical Genetics|March 6, 2025
Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical PhenotypesCamilla Meossi, Alessandro De Falco, Marco Marchi, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature ReviewAlessandro De Falco, Elia Marco Paolo Minale, Camilla Meossi, et al.
Journal of Lipid Research|July 9, 2026
B4GALT5 deficiency impairs glycosphingolipid biosynthesis: a new Congenital Disorder of Glycosylation?Linda Montavoci, Michele Dei Cas, Anna Caretti, et al.
Genes|February 26, 2025
Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in <i>PACS1</i>: An Italian Cohort StudyStefano Pagano, Diego Lopergolo, Alessandro De Falco, et al.
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