ISABEL
LLANO RIVAS
Hospital Universitario 12 de Octubre
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (4)
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
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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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