Open Access Repository
Items where Author is "Aoto, PC"
 | Up a level |
Group by: Item Type | No Grouping
Number of items: 1.
Article
Palencia-Campos, A, Aoto, PC, Machal, EMF, Rivera-Barahona, A, Soto-Bielicka, P, Bertinetti, D, Baker, B, Vu, L, Piceci-Sparascio, F, Torrente, I, Boudin, E, Peeters, S, Van Hul, W, Huber, C, Bonneau, D, Hildebrand, MS, Coleman, M, Bahlo, M, Bennett, MF, Schneider, AL, Scheffer, IE, Kibaek, M, Kristiansen, BS, Issa, MY, Mehrez, MI, Ismail, S, Tenorio, J, Li, G, Skalhegg, BS, Otaify, GA, Temtamy, S, Aglan, M, Jonch, AE, De Luca, A, Mortier, G, Cormier-Daire, V, Ziegler, A, Wallis, M 
ORCID: 0000-0002-5441-1732, Lapunzina, P, Herberg, FW, Taylor, SS and Ruiz-Perez, VL 2020
, 'Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome'
, American Journal of Human Genetics, vol. 107, no. 5
, pp. 977-988
, doi: https://doi.org/10.1016/j.ajhg.2020.09.005.
ORCID: 0000-0002-5441-1732, Lapunzina, P, Herberg, FW, Taylor, SS and Ruiz-Perez, VL 2020
, 'Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome'
, American Journal of Human Genetics, vol. 107, no. 5
, pp. 977-988
, doi: https://doi.org/10.1016/j.ajhg.2020.09.005.