Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
2023 · European Journal of Medical Genetics · 12 citations
https://doi.org/10.1016/j.ejmg.2023.104747
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José Ramón Fernández‐Fructuoso
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José Ramón Fernández‐Fructuoso is an academic researcher from Santa Lucía University General Hospital. The author has contributed to research in topics: Neonatal Respiratory Health Research & Genetic Syndromes and Imprinting & Infant Development and Preterm Care. The author has an h-index of 6, co-authored 23 publications.
ORCID: 0000-0001-8488-4509Papers by this author
worksConsensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
2023 · European Journal of Medical Genetics · 12 citations
https://doi.org/10.1016/j.ejmg.2023.104747
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome
2025 · Clinical Epigenetics · 0 citations
https://doi.org/10.1186/s13148-025-02024-6
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