PABLO
RUIZ OCAÑA
Investigador no período 2018-2019
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Instituto de Salud Carlos III
Madrid, EspañaPublicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (3)
2021
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High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
European Journal of Endocrinology, Vol. 185, Núm. 5, pp. 691-705
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
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