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Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Cancer Commun (Lond). 2021 Mar;41(3):218-228. doi: 10.1002/cac2.12134. Epub 2021 Feb 25.
Cancer Commun (Lond). 2021.
PMID: 33630411
Free PMC article.
Characterization of a novel POLD1 missense founder mutation in a Spanish population.
Ferrer-Avargues R, Díez-Obrero V, Martín-Tomás E, Hernández-Illán E, Castillejo MI, Codoñer-Alejos A, Barberá VM, Sánchez-Heras AB, Segura Á, Juan MJ, Tena I, Castillejo A, Soto JL.
Ferrer-Avargues R, et al.
J Gene Med. 2017 Apr;19(4). doi: 10.1002/jgm.2951.
J Gene Med. 2017.
PMID: 28306219
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Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.
Vasquez-Forero DM, Masotto B, Ferrer-Avargues R, Moya CM, Pachajoa H.
Vasquez-Forero DM, et al. Among authors: ferrer avargues r.
Front Genet. 2023 Jul 5;14:1183362. doi: 10.3389/fgene.2023.1183362. eCollection 2023.
Front Genet. 2023.
PMID: 37476413
Free PMC article.
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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Caron V, Chassaing N, Ragge N, Boschann F, Ngu AM, Meloche E, Chorfi S, Lakhani SA, Ji W, Steiner L, Marcadier J, Jansen PR, van de Pol LA, van Hagen JM, Russi AS, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid BM, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan FF, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont ML, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski JR, Calame DG, Geneviève D, Chatron N, Schluth-Bolard C, Myers KA, Dobyns WB, Calvas P; DDD Study; Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin DM, Tremblay A, Michaud JL.
Caron V, et al. Among authors: ferrer avargues r.
Genet Med. 2023 Aug;25(8):100856. doi: 10.1016/j.gim.2023.100856. Epub 2023 Apr 20.
Genet Med. 2023.
PMID: 37092537
Free article.
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