Bioaraba
Centro de investigación
University of East Anglia
Norwich, Reino UnidoPublicaciones en colaboración con investigadores/as de University of East Anglia (6)
2024
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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Clinical Epigenetics, Vol. 16, Núm. 1
2022
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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
Clinical Epigenetics, Vol. 14, Núm. 1
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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
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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
Clinical Epigenetics, Vol. 14, Núm. 1
2020
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Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196