Publikationen in Zusammenarbeit mit Forschern von University of East Anglia (4)

2024

  1. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Clinical Epigenetics, Vol. 16, Núm. 1

2022

  1. 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

  2. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

    Clinical Epigenetics, Vol. 14, Núm. 1

2020

  1. 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