ISABEL
LLANO RIVAS
Hospital Universitario Central de Asturias
Oviedo, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario Central de Asturias (8)
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
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
2015
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Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 9, pp. 2034-2041
2012
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A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude Syndrome
Pediatric Dermatology, Vol. 29, Núm. 6, pp. 768-770
2010
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Hipocondroplasia. Diagnóstico clínico, radiológico y genético. A propósito de dos observaciones precoces
Revista Espanola de Pediatria, Vol. 66, Núm. 3, pp. 167-170
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Incontinentia pigmenti con inicio clínico atípico
Anales de Pediatria, Vol. 72, Núm. 1, pp. 82-83
2009
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Síndrome de Aarskog-Scott. A propósito de un caso con identificación molecular de la mutación génica
Acta Pediatrica Espanola, Vol. 67, Núm. 11, pp. 542-544