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GREGoR: Accelerating Genomics for Rare Diseases.
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Gibbs RA, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT, Members GP, Carvalho CMB, Gifford CA, May S, Miller DE, Rehm HL, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB, Diseases GRTETGOR, Consortium. Dawood M, et al. Among authors: carvalho cmb. ArXiv [Preprint]. 2024 Dec 18:arXiv:2412.14338v1. ArXiv. 2024. PMID: 39764392 Free PMC article. Preprint.
Circulating miR-134 in mesial temporal lobe epilepsy: implications in hippocampal sclerosis development and drug resistance.
Guerra Leal B, Carvalho C, Santos C, Samões R, Martins-Ferreira R, Teixeira C, Rodrigues D, Freitas J, Lemos C, Chorão R, Ramalheira J, Lopes J, Martins da Silva A, Pinho E Costa P, Chaves J. Guerra Leal B, et al. Among authors: carvalho c. Front Mol Neurosci. 2024 Dec 18;17:1512860. doi: 10.3389/fnmol.2024.1512860. eCollection 2024. Front Mol Neurosci. 2024. PMID: 39744540 Free PMC article.
Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.
Lima BA, Pais AC, Dupont J, Dias P, Custódio N, Sousa AB, Carmo-Fonseca M, Carvalho C. Lima BA, et al. Among authors: carvalho c. Life Sci Alliance. 2024 Dec 31;8(3):e202402845. doi: 10.26508/lsa.202402845. Print 2025 Mar. Life Sci Alliance. 2024. PMID: 39741007 Free PMC article.
3,198 results