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Neurocase|March 7, 2022
Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findingsI Irene Díez García-Prieto, Sara Lopez-Martín, Jacobo Albert, et al.
European Journal of Medical Genetics|October 12, 2020
ANO3 and early-onset dyskinetic encephalopathyAna Jiménez de Domingo, Sara Lopez-Martín, Jacobo Albert, et al.
American Journal of Medical Genetics. Part A|December 24, 2022
ZDHHC15 as a candidate gene for autism spectrum disorderDolors Casellas-Vidal, Irene Mademont-Soler, Joana Sánchez, et al.
Haematologica|May 30, 2013
Aberrant DNA methylation profile of chronic and transformed classic Philadelphia-negative myeloproliferative neoplasmsCristina Pérez, Marien Pascual, José Ignacio Martín-Subero, et al.
Archivos Espanoles De Urologia|December 1, 2021
[Renal allograft transplant vascular complications. Diagnostic and treatment.]Victoria Gómez Dos Santos, Vital Hevia Palacios, Cristina Galeano Álvarez, et al.
American Journal of Medical Genetics. Part A|October 5, 2023
Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findingsMar Jiménez de la Peña, Irene Rincón-Pérez, Sara López-Martín, et al.
Applied Neuropsychology. Child|September 2, 2021
A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited <i>PQBP1</i> missense mutationSara Lopez-Martín, Jacobo Albert, Mᵃ Del Mar Peña Vila-Belda, et al.
Plos One|March 10, 2011
Frequent and simultaneous epigenetic inactivation of TP53 pathway genes in acute lymphoblastic leukemiaAmaia Vilas-Zornoza, Xabier Agirre, Vanesa Martín-Palanco, et al.
Physiologia Plantarum|July 2, 2025
Advancements in Water-Saving Strategies and Crop Adaptation to Drought: A Comprehensive ReviewJuan D Franco-Navarro, Yaiza Gara Padilla, Sara Álvarez, et al.
Genes|September 28, 2021
Biallelic <i>SYNE2</i> Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and AutismNatalie Young, Maria Asif, Matthew Jackson, et al.
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