ISABEL
LLANO RIVAS
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)
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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RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome
Frontiers in Pediatrics, Vol. 10
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