INVESTIGACIÓN EN ENFERMEDADES RARAS
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (6)
2023
2022
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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
Clinical Epigenetics, Vol. 14, Núm. 1
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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
Clinical Epigenetics, Vol. 14, Núm. 1
2020
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Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196
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
2018
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Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement
Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500