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Atencion Primaria|November 14, 2022
[Referral criteria to clinical genetics from primary care: Consensus document]Ismael Ejarque Doménech, Purificación Marín Reina, Sixto García-Miñaur Rica, et al.
Current Urology Reports|January 22, 2020
The Failing Kidney Transplant Allograft. Transplant Nephrectomy: Current State-of-the-ArtVictoria Gómez-Dos-Santos, Javier Lorca-Álvaro, Vital Hevia-Palacios, et al.
Molecular Syndromology|June 28, 2021
Neuroimaging Findings in Patients with <i>EBF3</i> Mutations: Report of Two CasesMar Jiménez de la Peña, Ana Jiménez de Domingo, Pilar Tirado, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 8, 2016
Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patientAlberto Fernández-Jaén, Sara Álvarez, Eui Young So, et al.
BMC Bioinformatics|December 31, 2022
PhenoExam: gene set analyses through integration of different phenotype databasesAlejandro Cisterna, Aurora González-Vidal, Daniel Ruiz, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 21, 2021
Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrationsMar Jiménez de la Peña, Daniel Martín Fernández-Mayoralas, Sara López-Martín, et al.
Molecular Genetics & Genomic Medicine|January 26, 2025
Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis CaseMar Jiménez de la Peña, Sara López-Martín, Daniel Martín Fernández-Mayoralas, et al.
Current Urology|March 20, 2024
The challenging management of malignant ureteral obstruction: Analysis of a series of 188 casesAlberto Artiles Medina, Inés Laso García, Fernando González Tello, et al.
Small Gtpases|March 4, 2021
Biallelic <i>ELMO3</i> mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disabilityViviane Tran, Marie-Anne Goyette, Mónica Martínez-García, et al.
Molecular Syndromology|April 14, 2022
Bi-Allelic c.1746G>T; p.Leu582= Variants in <i>TUBGCP4</i> in a Boy with Autism: Clinical Data and Literature ReviewDaniel Martín Fernández-Mayoralas, Jacobo Albert, Sara López-Martín, et al.
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