Works matching Southern blot


Results: 4421
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    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1887, doi. 10.1093/brain/awad436
    By:
    • Currò, Riccardo;
    • Dominik, Natalia;
    • Facchini, Stefano;
    • Vegezzi, Elisa;
    • Sullivan, Roisin;
    • Deforie, Valentina Galassi;
    • Fernández-Eulate, Gorka;
    • Traschütz, Andreas;
    • Rossi, Salvatore;
    • Garibaldi, Matteo;
    • Kwarciany, Mariusz;
    • Taroni, Franco;
    • Brusco, Alfredo;
    • Good, Jean-Marc;
    • Cavalcanti, Francesca;
    • Hammans, Simon;
    • Ravenscroft, Gianina;
    • Roxburgh, Richard H;
    • group, RFC1 repeat expansion study;
    • Schnekenberg, Ricardo Parolin
    Publication type:
    Article
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    ANÁLISE COMPARATIVA ENTRE AS METODOLOGIAS DE PCR METILAÇÃO-ESPECÍFICA (MSP), SOUTHERN BLOT (SB) E FISH UTILIZADAS NO DIAGNÓSTICO GENÉTICO MOLECULAR DE PACIENTES COM SUSPEITA CLÍNICA DAS SÍNDROMES DE PRADER-WILLI OU ANGELMAN.

    Published in:
    Clinical & Biomedical Research, 2016, v. 36, n. 2, p. 71, doi. 10.4322/2357-9730.64823
    By:
    • Oliveira, Bruna;
    • da Cunha Veber, Letícia;
    • Félix, Têmis Maria;
    • Riegel, Mariluce;
    • Bandeira da Silva, Isabel Cristina;
    • Streit, Carla;
    • Leistner-Segal, Sandra
    Publication type:
    Article
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    Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration.

    Published in:
    Acta Neuropathologica, 2015, v. 130, n. 3, p. 363, doi. 10.1007/s00401-015-1445-9
    By:
    • Suh, EunRan;
    • Lee, Edward;
    • Neal, Donald;
    • Wood, Elisabeth;
    • Toledo, Jon;
    • Rennert, Lior;
    • Irwin, David;
    • McMillan, Corey;
    • Krock, Bryan;
    • Elman, Lauren;
    • McCluskey, Leo;
    • Grossman, Murray;
    • Xie, Sharon;
    • Trojanowski, John;
    • Deerlin, Vivianna
    Publication type:
    Article
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    C9orf72 GENETIC SCREENING IN AMYOTROPHIC LATERAL SCLEROSIS PATIENTS FROM SERBIA.

    Published in:
    Genetika (0534-0012), 2023, v. 55, n. 1, p. 1, doi. 10.2298/GENSR2301001M
    By:
    • MARJANOVIC, Ana;
    • PALIBRK, Aleksa;
    • DOBRICIC, Valerija;
    • MILICEVIC, Ognjen;
    • BRANKOVIC, Marija;
    • VIRIC, Vanja;
    • DRINIC, Aleksandra;
    • MANDIC STOJMENOVIC, Gorana;
    • JANKOVIC, Milena;
    • BASTA, Ivana;
    • PERIC, Stojan;
    • NOVAKOVIC, Ivana;
    • STEFANOVA, Elka;
    • STEVIC, Zorica
    Publication type:
    Article
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    Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9206, doi. 10.3390/ijms24119206
    By:
    • Ciobanu, Cristian-Gabriel;
    • Nucă, Irina;
    • Popescu, Roxana;
    • Antoci, Lucian-Mihai;
    • Caba, Lavinia;
    • Ivanov, Anca Viorica;
    • Cojocaru, Karina-Alexandra;
    • Rusu, Cristina;
    • Mihai, Cosmin-Teodor;
    • Pânzaru, Monica-Cristina
    Publication type:
    Article
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