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American Journal of Medical Genetics. Part A|October 26, 2022
Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemiaAna Elísabet López-Sundh, Esperanza Escribano-Palomino, Marta Feito-Rodríguez, et al.
Genes|May 28, 2022
Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the LiteratureNatalia Gallego-Zazo, Alejandro Cruz-Utrilla, María Jesús Del Cerro, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 10, 2023
Adult experiences in Beckwith-Wiedemann syndromeWilliam A Drust, Alessandro Mussa, Andrea Gazzin, et al.
Clinical Genetics|October 31, 2023
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorderAlejandro Parra, Patricia Pascual, Mario Cazalla, et al.
Cells|July 2, 2021
Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue DiseaseIgnacio Hernandez-Gonzalez, Jair Tenorio-Castano, Nuria Ochoa-Parra, et al.
Revista Espanola De Cardiologia (English Ed.)|July 26, 2016
Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial HypertensionPaula Navas, Jair Tenorio, Carlos Andrés Quezada, et al.
Clinical Genetics|September 13, 2023
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiencyJair Tenorio-Castano, Ángela Sánchez-Algaba Gómez, Mónica Coronado, et al.
Clinical Genetics|January 11, 2019
MRX93 syndrome (BRWD3 gene): five new patients with novel mutationsJair Tenorio, Pablo Alarcón, Pedro Arias, et al.
Genes|February 27, 2026
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease SpectrumPaloma Lapunzina-Soler, Amir Shabaka, Ramón Peces, et al.
Clinical and Translational Science|December 2, 2017
Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 YearsAlberto M Borobia, Irene Dapia, Hoi Y Tong, et al.
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