Bioquímica y Biología Molecular
Département
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 (11)
2023
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New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
Frontiers in Genetics, Vol. 14
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P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease
Neurobiology of Disease, Vol. 177
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The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent
Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895
2020
2019
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DEXI, a candidate gene for type 1 diabetes, modulates rat and human pancreatic beta cell inflammation via regulation of the type I IFN/STAT signalling pathway
Diabetologia, Vol. 62, Núm. 3, pp. 459-472
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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2015
2012
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Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis
Multiple Sclerosis Journal, Vol. 18, Núm. 7, pp. 983-990
2009
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ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation
European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69
2008
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Genética del seudohipoparatiroidismo: Bases para el consejo genético
Endocrinologia y Nutricion, Vol. 55, Núm. 10, pp. 476-483
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New mutation type in pseudohypoparathyroidism type Ia
Clinical Endocrinology, Vol. 69, Núm. 5, pp. 705-712