ISABEL
LLANO RIVAS
Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (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
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
2015
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Human Mutation, Vol. 36, Núm. 11, pp. 1052-1063