ELENA
VALLESPÍN GARCÍA
Profesora asociada
Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (6)
2021
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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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly
Journal of Experimental Medicine, Vol. 216, Núm. 2, pp. 407-418
2018
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Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature
Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829
2013
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PLP1 gene analysis in 88 patients with leukodystrophy
Clinical Genetics, Vol. 84, Núm. 6, pp. 566-571