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Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
van der Laan L, Rooney K, Alders M, Relator R, McConkey H, Kerkhof J, Levy MA, Lauffer P, Aerden M, Theunis M, Legius E, Tedder ML, Vissers LELM, Koene S, Ruivenkamp C, Hoffer MJV, Wieczorek D, Bramswig NC, Herget T, González VL, Santos-Simarro F, Tørring PM, Denomme-Pichon AS, Isidor B, Keren B, Julia S, Schaefer E, Francannet C, Maillard PY, Misra-Isrie M, Van Esch H, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: gonzalez vl. Int J Mol Sci. 2022 Nov 8;23(22):13664. doi: 10.3390/ijms232213664. Int J Mol Sci. 2022. PMID: 36430143 Free PMC article.
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL. Caparros-Martin JA, et al. Among authors: gonzalez v. Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116328 Free PMC article.
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R. Furlano M, et al. Among authors: gonzalez vl. Am J Kidney Dis. 2021 Oct;78(4):560-570.e1. doi: 10.1053/j.ajkd.2021.02.326. Epub 2021 Apr 7. Am J Kidney Dis. 2021. PMID: 33838161 Free article.
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenäs L, Merker A, Leiva-Gea A, González VL, Raimann A, Rehberg M, Santos-Simarro F, Ertl DA, Gregersen PA, Onesimo R, Landfeldt E, Jarrett J, Quinn J, Rowell R, Pimenta J, Cohen S, Butt T, Shediac R, Mukherjee S, Mohnike K. Maghnie M, et al. Among authors: gonzalez vl. Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2. Orphanet J Rare Dis. 2023. PMID: 36922864 Free PMC article.
A Phylogenomic Backbone for Gastropod Molluscs.
Uribe JE, González VL, Irisarri I, Kano Y, Herbert DG, Strong EE, Harasewych MG. Uribe JE, et al. Among authors: gonzalez vl. Syst Biol. 2022 Oct 12;71(6):1271-1280. doi: 10.1093/sysbio/syac045. Syst Biol. 2022. PMID: 35766870
38 results