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European Journal of Medical Genetics|June 15, 2022
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modellingIrene Hidalgo Mayoral, Antonio Martínez-Salio, Sara Llamas-Velasco, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|June 14, 2023
Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humansBernat Córdoba-Jover, Jordi Ribera, Irene Portolés, et al.
Neuropediatrics|September 20, 2022
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish FamiliesEmma Soengas-Gonda, Rubén Pérez de la Fuente, Ana Arteche-López, et al.
Genes|April 30, 2021
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier TestAna Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez Calvin, et al.
Neurogenetics|July 23, 2021
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation centerJuan F Quesada-Espinosa, Lucía Garzón-Lorenzo, José M Lezana-Rosales, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological InvolvementValentina Galassi Deforie, Reza Maroofian, Irem Karagoz, et al.
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