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Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability.
Tran V, Goyette MA, Martínez-García M, Jiménez de Domingo A, Fernández-Mayoralas DM, Fernández-Perrone AL, Tirado P, Calleja-Pérez B, Álvarez S, Côté JF, Fernández-Jaén A. Tran V, et al. Small GTPases. 2022 Jan;13(1):48-55. doi: 10.1080/21541248.2021.1888557. Epub 2021 Mar 4. Small GTPases. 2022. PMID: 33660564 Free PMC article.
[Joubert syndrome: a report of 5 cases].
Calleja-Pérez B, Fernández-Jaén A, Martínez-Bermejo A, Pascual-Castroviejo I. Calleja-Pérez B, et al. Rev Neurol. 1998 Apr;26(152):548-50. Rev Neurol. 1998. PMID: 9796002 Spanish.
[Asperger syndrome: diagnosis and treatment].
Fernández-Jaén A, Martin Fernández-Mayoralas D, Calleja-Pérez B, Muñoz-Jareno N. Fernández-Jaén A, et al. Rev Neurol. 2007 Mar 2;44 Suppl 2:S53-5. Rev Neurol. 2007. PMID: 17347946 Free article. Spanish.
56 results