Guiomar
Pérez de Nanclares Leal
Institut d'Investigació Biomédica de Bellvitge
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Institut d'Investigació Biomédica de Bellvitge (4)
2022
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Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome
Journal of Medical Genetics, Vol. 59, Núm. 3, pp. 253-261
2018
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Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement
Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500
2016
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Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques
American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749
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Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects
Clinical Epigenetics, Vol. 8, Núm. 1, pp. 1-12