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Publicacions

  • Fernandez Diaz V, Ortigoza-Escobar JD, Noguera-Julian A, Fortuny-Guasch C, Trenchs-Sainz de la Maza V and YOLANDA FERNÁNDEZ SANTERVAS.

    Human immunodeficiency virus serology in a pediatric emergency department: reasons for ordering tests and the characteristics of positive cases

    Emergencias . 25(4): 289-291. Nº de cites: 2

  • Balaguer, Albert, Martín-Ancel A, Ortigoza-Escobar JD, Escribano, Joaquin and Argemi, Josep.

    The model of palliative care in the perinatal setting: a review of the literature

    BMC Pediatrics . 12: 25-25. Nº de cites: 110

    [doi:10.1186/1471-2431-12-25]

  • Domínguez-Carral J, Reinhard C, Yoo J, Soliani L, Cif L and Ortigoza-Escobar JD.

    Caregivers' Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders.

    Neuromodulation : journal of the International Neuromodulation Society . : .

    [doi:10.1016/j.neurom.2025.05.005]

  • Wang M, Helal S, Torabi-Marashi A, Goodman S, Kallurkar P, Truong TK, Mizrahi-Powell E, Evrony GD, Chacon-Fonseca I, Valenzuela Palafoll I, Kannu P, Piton A, Chitayat D, Boerkoel CF, Mendoza-Londono R, Ortigoza-Escobar JD, Kwint M, Rots D, Kleefstra T, Wojcik MH, Scherer SW, Hon-Yin Chung B, Ko JM, Bjornsson HT, Harris JR, Choufani S and Weksberg R.

    A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

    AMERICAN JOURNAL OF HUMAN GENETICS . : .

    [doi:10.1016/j.ajhg.2026.04.010]