INVESTIGACIÓN EN ENFERMEDADES RARAS
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von 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