Patología Molecular de las enfermedades raras
PatMol-ER
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)
2024
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Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study
The Journal of clinical endocrinology and metabolism, Vol. 109, Núm. 3, pp. e932-e944
2023
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Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
Journal of Clinical Medicine, Vol. 12, Núm. 7
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Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy
Diabetes, Vol. 72, Núm. 1, pp. 71-84
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Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing
Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113
2015
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Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience
Endocrine, Vol. 49, Núm. 1, pp. 139-147