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More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.
Int J Mol Sci. 2019 Dec 4;20(24):6124. doi: 10.3390/ijms20246124.
Int J Mol Sci. 2019.
PMID: 31817290
Free PMC article.
Review.
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J.
Latorre-Pellicer A, et al. Among authors: antonanzas perez r.
Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z.
Sci Rep. 2021.
PMID: 34326454
Free PMC article.
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Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Latorre-Pellicer A, Ascaso Á, Trujillano L, Gil-Salvador M, Arnedo M, Lucia-Campos C, Antoñanzas-Pérez R, Marcos-Alcalde I, Parenti I, Bueno-Lozano G, Musio A, Puisac B, Kaiser FJ, Ramos FJ, Gómez-Puertas P, Pié J.
Latorre-Pellicer A, et al. Among authors: antonanzas perez r.
Int J Mol Sci. 2020 Feb 4;21(3):1042. doi: 10.3390/ijms21031042.
Int J Mol Sci. 2020.
PMID: 32033219
Free PMC article.
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