The library will be closed between August 10, 2026 and August 16, 2026. During this period, it will be possible to upload publications, but all other services will be suspended.
Szakszon, K.,
Lourenco, C. M.,
Callewaert, B. L.,
Geneviève, D.,
Rouxel, F.,
Morin, D.,
Denommé-Pichon, A. S.,
Vitobello, A.,
Patterson, W. G.,
Louie, R.,
Pinto e Vairo, F.,
Klee, E.,
Kaiwar, C.,
Gavrilova, R. H.,
Agre, K. E.,
Jacquemont, S.,
Khadijé, J.,
Giltay, J.,
van Gassen, K.,
Merő, G.,
Gerkes, E.,
Van Bon, B. W.,
Rinne, T.,
Pfundt, R.,
Brunner, H. G.,
Caluseriu, O.,
Grasshoff, U.,
Kehrer, M.,
Haack, T. B.,
Khelifa, M. M.,
Bergmann, A. K.,
Cueto-González, A. M.,
Martorell, A. C.,
Ramachandrappa, S.,
Sawyer, L. B.,
Fasel, P.,
Braun, D.,
Isis, A.,
Superti-Furga, A.,
McNiven, V.,
Chitayat, D.,
Ahmed, S. A.,
Brennenstuhl, H.,
Schwaibolf, E. M. C.,
Battisti, G.,
Parmentier, B.,
Stevens, S. J. C.:
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with mutations.
J. Med. Genet. 61 (2), 132-141, (article identifier: 2022), 2024.
Parry, D. A.,
Tamayo-Orrego, L.,
Carroll, P.,
Marsh, J. A.,
Greene, P.,
Murina, O.,
Uggenti, C.,
Leitch, A.,
Káposzta, R.,
Merő, G.,
Nagy, A.,
Orlik, B.,
Kovács, P. B.,
Quigley, A. J.,
Riszter, M.,
Rankin, J.,
Reijns, M. A. M.,
Szakszon, K.,
Jackson, A. P.:
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Genes Dev. 34 (21-22), 1520-1533, 2020.
