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Page 1
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S. Del Caño-Ochoa F, et al. J Inherit Metab Dis. 2023 Nov;46(6):1170-1185. doi: 10.1002/jimd.12667. Epub 2023 Sep 11. J Inherit Metab Dis. 2023. PMID: 37540500 Free PMC article.
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
Francisco-Velilla R, Embarc-Buh A, Del Caño-Ochoa F, Abellan S, Vilar M, Alvarez S, Fernandez-Jaen A, Kour S, Rajan DS, Pandey UB, Ramón-Maiques S, Martinez-Salas E. Francisco-Velilla R, et al. Among authors: del cano ochoa f. Life Sci Alliance. 2022 Apr 7;5(7):e202201403. doi: 10.26508/lsa.202201403. Print 2022 Jul. Life Sci Alliance. 2022. PMID: 35393353 Free PMC article.
The GATA3 X308_Splice breast cancer mutation is a hormone context-dependent oncogenic driver.
Hruschka N, Kalisz M, Subijana M, Graña-Castro O, Del Cano-Ochoa F, Brunet LP, Chernukhin I, Sagrera A, De Reynies A, Kloesch B, Chin SF, Burgués O, Andreu D, Bermejo B, Cejalvo JM, Sutton J, Caldas C, Ramón-Maiques S, Carroll JS, Prat A, Real FX, Martinelli P. Hruschka N, et al. Among authors: del cano ochoa f. Oncogene. 2020 Aug;39(32):5455-5467. doi: 10.1038/s41388-020-1376-3. Epub 2020 Jun 25. Oncogene. 2020. PMID: 32587399 Free PMC article.
16 results