ISABEL
LLANO RIVAS
Hospital de Cruces
Barakaldo, EspañaPublicaciones en colaboración con investigadores/as de Hospital de Cruces (14)
2023
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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas
Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724
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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
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Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
Frontiers in Genetics, Vol. 14
2022
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Ampliando el diagnóstico de las manchas café con leche
Piel, Vol. 37, Núm. 1, pp. 59-60
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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
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366
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Novel APOB mutation in familial hypobetalipoproteinemia
Journal of Clinical Lipidology, Vol. 16, Núm. 1, pp. 28-32
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RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome
Frontiers in Pediatrics, Vol. 10
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
2020
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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8
2019
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 721-730
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