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Archivos Argentinos De Pediatria|November 1, 2017
[16p11.2 Microdeletion: first report in Argentina]Agostina Tardivo, Bárbara Masotto, Lucía Espeche, et al.
American Journal of Medical Genetics. Part A|November 1, 2024
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish PatientsAna Isabel Sánchez Barbero, Irene Valenzuela, Paula Fernández-Alvarez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2024
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndromeIrene Valenzuela, Marta Codina-Solà, Elida Vazquez, et al.
Clinical Genetics|January 20, 2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers SyndromeLaura Trujillano, Irene Valenzuela, Mar Costa-Roger, et al.
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