GLORIA
BUENO LOZANO
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Essen University Hospital
Essen, AlemaniaPublicacións en colaboración con investigadores/as de Essen University Hospital (5)
2024
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Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 16, Núm. 2, pp. 211-217
2022
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Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
International Journal of Cardiovascular Imaging
2021
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
Scientific Reports, Vol. 11, Núm. 1
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High rate of autonomic neuropathy in Cornelia de Lange Syndrome
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2020
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Evaluating face2gene as a tool to identify cornelia de lange syndrome by facial phenotypes
International Journal of Molecular Sciences, Vol. 21, Núm. 3