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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 5, 2024
Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndromeTeresa Bada-Bosch, Angel M Sevillano, María Teresa Sánchez-Calvin, et al.
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.
Pediatric Neurology|April 3, 2024
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature ReviewCarmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, 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.
International Journal of Molecular Sciences|April 23, 2022
Heterozygous and Homozygous Variants in <i>SORL1</i> Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological FindingsMaria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa, 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.
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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