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Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.Revista Espanola De Salud Publica|December 16, 2020
[50 years of the Neonatal Screening Program in Catalonia.]Jose Luis Marín Soria, Rosa Mª López Galera, Ana Argudo Ramírez, et al.Pageof 11