INVESTIGACIÓN EN ENFERMEDADES RARAS
Complejo Hospitalario de Toledo
Toledo, EspañaPublications in collaboration with researchers from Complejo Hospitalario de Toledo (4)
2018
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What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
2012
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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6
2010
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New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962
2007
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The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities
Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713