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Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review.
Martín Fernández-Mayoralas D, Albert J, López-Martín S, de la Peña MJ, Fernández-Perrone AL, Jiménez de Domingo A, Calleja-Pérez B, Martínez-García M, Álvarez S, Fernández-Jaén A. Martín Fernández-Mayoralas D, et al. Mol Syndromol. 2022 Feb;13(2):165-170. doi: 10.1159/000519365. Epub 2021 Dec 2. Mol Syndromol. 2022. PMID: 35418825 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.
[Larsen syndrome: two reports of cases with spinal cord compromise].
Martín Fernández-Mayoralas D, Fernández-Jaén A, Muñoz-Jareño N, Calleja-Pérez B, San Antonio-Arce V, Martínez-Boniche H. Martín Fernández-Mayoralas D, et al. Rev Neurol. 2008 Jul 16-31;47(2):79-82. Rev Neurol. 2008. PMID: 18623006 Free article. Spanish.
131 results