Publicaciones en las que colabora con ARRATE PEREDA AGUIRRE (5)
2024
2023
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Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value
Journal of neuropathology and experimental neurology, Vol. 82, Núm. 2, pp. 169-179
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Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2
Frontiers in Endocrinology, Vol. 13
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Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
Frontiers in Genetics, Vol. 14
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Vitamin D deficiency in adulthood: Presentation of 2 familial cases simulating pseudohypoparathyroidism
Medicina Clinica, Vol. 161, Núm. 11, pp. 493-497