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    Academic Journal

    Source: Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

    File Description: 37 p.; application/pdf

    Relation: Versió postprint del document publicat a: https://doi.org/10.1164/rccm.202302-0231OC; American Journal Of Respiratory And Critical Care Medicine, 2024, vol. 210, num. 6, p. 766-778; https://doi.org/10.1164/rccm.202302-0231OC; https://hdl.handle.net/2445/217282; 9390313

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    Electronic Resource

    Source: Gerber, Céline B; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin‐Reina, Purificacion; Mark, Paul R; Martinez‐Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane (2022). Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clinical Genetics, 102(3):182-190.

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