Complexo Hospitalario Universitario de Santiago
Care center
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (97)
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
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Clinical practice guideline on the management of vestibular schwannoma
Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 2, pp. 108-128
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Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation
Schizophrenia Bulletin, Vol. 50, Núm. 2, pp. 327-338
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Corrigendum: Assessment of mesenchymal stem/stromal cell-based therapy in K/BxN serum transfer-induced arthritis (Frontiers in Immunology, (2022), 13, (943293), 10.3389/fimmu.2022.943293)
Frontiers in Immunology
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149
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Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
The Journal of experimental medicine, Vol. 221, Núm. 2
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Towards precision medicine of long-acting aripiprazole through population pharmacokinetic modelling
Psychiatry Research, Vol. 333
2023
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(Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer
International Journal of Cancer, Vol. 153, Núm. 9, pp. 1579-1591
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Analysis of Differentially Expressed MicroRNAs in Serum and Lung Tissues from Individuals with Severe Asthma Treated with Oral Glucocorticoids
International Journal of Molecular Sciences, Vol. 24, Núm. 2
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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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Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
Journal of Inherited Metabolic Disease, Vol. 46, Núm. 6, pp. 1170-1185
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Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas
Nutrients, Vol. 15, Núm. 16
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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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Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease
European Journal of Neurology, Vol. 30, Núm. 4, pp. 861-871
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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654
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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
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Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders
Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306
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Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review
Movement Disorders Clinical Practice, Vol. 10, Núm. 11, pp. 1671-1679