ÁFRICA
MANERO RUIZ DE AZÚA
Publicaciones (7) Publicaciones de ÁFRICA MANERO RUIZ DE AZÚA
2024
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Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS)
Genes, Vol. 15, Núm. 1
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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Clinical Epigenetics, Vol. 16, Núm. 1
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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C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia
Journal of Personalized Medicine, Vol. 13, Núm. 9
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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