Análisis clínicos
Especialidad
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (10)
2024
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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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A second update on mapping the human genetic architecture of COVID-19
Nature
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Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis
Journal of Endocrinological Investigation, Vol. 46, Núm. 8, pp. 1673-1684
2022
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Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity
Ophthalmic genetics, Vol. 43, Núm. 6, pp. 809-816
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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
2019
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Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)
Frontiers in Genetics, Vol. 10, Núm. OCT
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2015
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Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients
Journal of Medical Genetics, Vol. 52, Núm. 10, pp. 647-656