EDUCACIÓN
École doctorale
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)
2023
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Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8
The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1316-e1328
2022
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A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report
Frontiers in Endocrinology, Vol. 13
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Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report
Frontiers in Endocrinology, Vol. 13
2021
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Growth hormone treatment and papilledema: A prospective pilot study
JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 13, Núm. 2, pp. 146-151
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Myocardial Geometry and Dysfunction in Morbidly Obese Adolescents (BMI 35–40 kg/m2)
American Journal of Cardiology, Vol. 157, pp. 128-134