Publications by the researcher in collaboration with GUIOMAR PÉREZ DE NANCLARES LEAL (6)

2024

  1. Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS)

    Genes, Vol. 15, Núm. 1

2023

  1. 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

  2. C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia

    Journal of Personalized Medicine, Vol. 13, Núm. 9

  3. Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2

    Frontiers in Endocrinology, Vol. 13

  4. Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

    Frontiers in Genetics, Vol. 14

  5. Vitamin D deficiency in adulthood: Presentation of 2 familial cases simulating pseudohypoparathyroidism

    Medicina Clinica, Vol. 161, Núm. 11, pp. 493-497