Search Results - Brønstad, Kirsten

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  1. 1
    A nonsense variant in the N‐terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft

    A nonsense variant in the N‐terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft by Varland, Sylvia, Brønstad, Kirsten Marie, Skinner, Stephanie J., Arnesen, Thomas

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  2. 2
    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications by Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M. Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns, Da’as, Sahar I., Fakhro, Khalid A., Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W., Horvath, Rita, Ernst, Andreas M., Rothman, James E., McEntagart, Meriel, Crow, Yanick J., Alkuraya, Fowzan S., Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

    Published in Nature communications
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  3. 3
    Novel biallelic variants expand the phenotype of NAA20‐related syndrome

    Novel biallelic variants expand the phenotype of NAA20‐related syndrome by D'Onofrio, Gianluca, Cuccurullo, Claudia, Larsen, Silje Kathrine, Severino, Mariasavina, D'Amico, Alessandra, Brønstad, Kirsten, AlOwain, Mohammed, Morrison, Jennifer L., Wheeler, Patricia G., Webb, Bryn D., Alfalah, Abdullah, Iacomino, Michele, Uva, Paolo, Coppola, Antonietta, Merla, Giuseppe, Salpietro, Vincenzo Damiano, Zara, Federico, Striano, Pasquale, Accogli, Andrea, Arnesen, Thomas, Bilo, Leonilda

    Published in Clinical genetics
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  4. 4
    A nonsense variant in the N-terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft

    A nonsense variant in the N-terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft by Varland, Sylvia, Brønstad, Kirsten Marie, Skinner, Stephanie J, Arnesen, Thomas

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