Works about MEDICAL genomics

Results: 517
    1

    Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

    Published in:
    Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-08272-z
    By:
    • Heutinck, Pam A.T.;
    • Iglesias, Adriana I.;
    • Farhud, Dariush D.;
    • van Tienhoven, Marianne;
    • Khoshraftar, Atiyeh;
    • Zarif-Yeganeh, Marjan;
    • Kia, Sima Kheradmand;
    • Ghanbari, Mohsen;
    • Smoor, Magda A.;
    • Klaver, Caroline C.W.;
    • Hoefsloot, Lies H.;
    • Thiadens, Alberta A.H.J.;
    • Verhoeven, Virginie J.M.
    Publication type:
    Article
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    Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.

    Published in:
    Cerebellum, 2022, v. 21, n. 1, p. 49, doi. 10.1007/s12311-021-01268-1
    By:
    • da Graça, Felipe Franco;
    • Peluzzo, Thiago M.;
    • Bonadia, Luciana Cardoso;
    • Martinez, Alberto Rolim Muro;
    • Diniz de Lima, Fabricio;
    • Pedroso, José Luiz;
    • Barsottini, Orlando G. P.;
    • Gama, Maria Thereza Drummond;
    • Akçimen, Fulya;
    • Dion, Patrick A.;
    • Rouleau, Guy A.;
    • Marques Jr, Wilson;
    • França Jr, Marcondes Cavalcante
    Publication type:
    Article
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    Brugada Syndrome and GPD1L : Definite Genotype-Phenotype Association?

    Published in:
    Cardiogenetics, 2025, v. 15, n. 1, p. 9, doi. 10.3390/cardiogenetics15010009
    By:
    • Greco, Andrea;
    • Martínez-Barrios, Estefanía;
    • Cruzalegui, José;
    • Cesar, Sergi;
    • Chipa, Fredy;
    • Díez-Escuté, Nuria;
    • Cerralbo, Patricia;
    • Zschaeck, Irene;
    • Loredo, Paula;
    • Sarquella-Brugada, Georgia;
    • Campuzano, Oscar
    Publication type:
    Article
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    Cytogenomic epileptology.

    Published in:
    Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-022-00634-w
    By:
    • Iourov, Ivan Y.;
    • Gerasimov, Alexandr P.;
    • Zelenova, Maria A.;
    • Ivanova, Natalya E.;
    • Kurinnaia, Oksana S.;
    • Zabrodskaya, Yulia M.;
    • Demidova, Irina A.;
    • Barantsevich, Evgeny R.;
    • Vasin, Kirill S.;
    • Kolotii, Alexey D.;
    • Ushanov, Vseslav V.;
    • Sitovskaya, Darya A.;
    • Lobzhanidze, Timur B.-A.;
    • Iuditskaia, Maria E.;
    • Iakushev, Nikita S.;
    • Zhumatov, Muslim M.;
    • Vorsanova, Svetlana G.;
    • Samochernyh, Konstantin A.
    Publication type:
    Article
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    Genomic profiling of plasmablastic lymphoma using array comparative genomic hybridization (aCGH): revealing significant overlapping genomic lesions with diffuse large B-cell lymphoma.

    Published in:
    Journal of Hematology & Oncology, 2009, v. 2, p. 1, doi. 10.1186/1756-8722-2-47
    By:
    • Chung-Che Chang;
    • Xiaobo Zhou;
    • Taylor, Jesalyn J.;
    • Wan-Ting Huang;
    • Ren, Xianwen;
    • Monzon, Federico;
    • Yongdong Feng;
    • Rao, Pulivarthi H.;
    • Xin-Yan Lu;
    • Fabio, Facchetti;
    • Hilsenbeck, Susan;
    • Creighton, Chad J.;
    • Jaffe, Elaine S.;
    • Ching-Ching Lau
    Publication type:
    Article
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    Phenotyping: Targeting genotype's rich cousin for diagnosis.

    Published in:
    Journal of Paediatrics & Child Health, 2015, v. 51, n. 4, p. 381, doi. 10.1111/jpc.12705
    By:
    • Baynam, Gareth;
    • Walters, Mark;
    • Claes, Peter;
    • Kung, Stefanie;
    • LeSouef, Peter;
    • Dawkins, Hugh;
    • Bellgard, Matthew;
    • Girdea, Marta;
    • Brudno, Michael;
    • Robinson, Peter;
    • Zankl, Andreas;
    • Groza, Tudor;
    • Gillett, David;
    • Goldblatt, Jack
    Publication type:
    Article
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    ETHICS SEMINAR.

    Published in:
    West Indian Medical Journal, 2020, v. 69, p. 14
    Publication type:
    Article
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    PROGRAMME OVERVIEW.

    Published in:
    West Indian Medical Journal, 2020, v. 69, p. 6
    Publication type:
    Article
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    Integration-deficient lentivectors: an effective strategy to purify and differentiate human embryonic stem cell-derived hepatic progenitors.

    Published in:
    BMC Biology, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1741-7007-11-86
    By:
    • Guanghua Yang;
    • Si-Tayeb, Karim;
    • Corbineau, Sébastien;
    • Vernet, Rémi;
    • Gayon, Régis;
    • Dianat, Noushin;
    • Martinet, Clémence;
    • Clay, Denis;
    • Goulinet-Mainot, Sylvie;
    • Tachdjian, Gérard;
    • Burks, Deborah;
    • Vallier, Ludovic;
    • Bouillé, Pascale;
    • Dubart-Kupperschmitt, Anne;
    • Weber, Anne
    Publication type:
    Article
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