Elionora Peña Lozano

Elionora Peña Lozano

Postdoc


Publication year:
  1. 2023
  2. Published

    Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing

    Gul, Rutaba, Firasat, S., Schubert, Mikkel, Ullah, A., Peña Lozano, Elionora, Thuesen, Anne Cathrine Baun, Gjesing, A. P., Hussain, M., Tufail, M., Saqib, M., Afshan, K. & Hansen, Torben, 2023, In: Frontiers in Genetics. 14, 14 p., 1254909.

    Research output: Contribution to journalJournal articlepeer-review

  3. 2022
  4. Published

    Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion

    Ullah, A., Shah, A. A., Alluqmani, M., Haider, N., Aman, H., Alfadhli, F., Almatrafi, A. M., Albalawi, A. M., Krishin, J., Ullah Khan, F., Anjam, B. A., Abdullah, Peña Lozano, Elionora, Samad, A., Ahmad, W., Hansen, Torben, Xia, K. & Basit, S., 2022, In: International Journal of Developmental Neuroscience. 82, 8, p. 788-804

    Research output: Contribution to journalJournal articlepeer-review

ID: 284679300