ISABEL
LLANO RIVAS
Hospital Virgen de la Arrixaca
Murcia, EspañaPublicaciones en colaboración con investigadores/as de Hospital Virgen de la Arrixaca (6)
2023
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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654
2022
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Clinical utility of genetic testing in early-onset kidney disease: Seven genes are the main players
Nephrology Dialysis Transplantation, Vol. 37, Núm. 4, pp. 687-696
2021
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
2018
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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
Kidney International, Vol. 94, Núm. 2, pp. 363-371
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Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy
Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2457-2467