Works matching DE "GENETIC testing"


Results: 5000
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    Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach.

    Published in:
    Clinical Genetics, 2025, v. 108, n. 2, p. 115, doi. 10.1111/cge.14715
    By:
    • Petillo, Roberta;
    • De Maggio, Ilaria;
    • Piscopo, Carmelo;
    • Chetta, Massimiliano;
    • Tarsitano, Marina;
    • Chiriatti, Luigi;
    • Sannino, Elvira;
    • Torre, Serena;
    • D'Antonio, Marcella;
    • D'Ambrosio, Paola;
    • Rambaldi, Marco;
    • Cioce, Maria;
    • De Stefano, Valentina;
    • Parisi, Maria Rita;
    • Telese, Antonella;
    • Oro, Maria;
    • Rivieccio, Maria;
    • Radio, Francesca Clementina;
    • Mancini, Cecilia;
    • Niceta, Marcello
    Publication type:
    Article
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    A CRISPR/Cas9 screen reveals proteins at the endosome-Golgi interface that modulate cellular anti-sense oligonucleotide activity.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-61039-y
    By:
    • Malong, Liza;
    • Roskosch, Jessica;
    • Hager, Carolina;
    • Fortin, Jean-Philippe;
    • Schmucki, Roland;
    • Callow, Marinella G.;
    • Weile, Christian;
    • Romeo, Valentina;
    • Patsch, Christoph;
    • Martin, Scott;
    • Costa, Mike;
    • Modrusan, Zora;
    • Villaseñor, Roberto;
    • Koller, Erich;
    • Haley, Benjamin;
    • Spang, Anne;
    • Roudnicky, Filip
    Publication type:
    Article
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    Reply.

    Published in:
    Ultrasound in Obstetrics & Gynecology, 2025, v. 66, n. 1, p. 114, doi. 10.1002/uog.29280
    By:
    • Gadsbøll, K.;
    • Brix, N.;
    • Sandager, P.;
    • Petersen, O. B.;
    • Souka, A. P.;
    • Nicolaides, K. H.;
    • Vogel, I.
    Publication type:
    Article
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    BRCA mutations and prostate cancer: should urologist improve daily clinical practice?

    Published in:
    Archives of Italian Urology & Andrology / Archivio Italiano di Urologia Andrologia, 2025, v. 97, n. 2, p. 1, doi. 10.4081/aiua.2025.13635
    By:
    • Vatrano, Simona;
    • Pepe, Pietro;
    • Pepe, Ludovica;
    • Vella, Nuccia;
    • Alario, Cristina;
    • Chiarandà, Alessia;
    • Taranto, Chiara;
    • Scillieri, Renato;
    • Mauceri, Cristina;
    • Fraggetta, Filippo
    Publication type:
    Article
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    Identification of DAGLB variants in Japanese early-onset Parkinson's disease.

    Published in:
    Journal of Neural Transmission, 2025, v. 132, n. 7, p. 1023, doi. 10.1007/s00702-025-02926-y
    By:
    • Luo, Yue;
    • Funayama, Manabu;
    • Hatano, Taku;
    • Li, Yuanzhe;
    • Yoshino, Hiroyo;
    • Yamashita, Satoshi;
    • Mori, Akira;
    • Nakamura, Ryoichi;
    • Hashizume, Yoshio;
    • Yoshida, Mari;
    • Riku, Yuichi;
    • Kanzato, Naomi;
    • Hattori, Nobutaka
    Publication type:
    Article
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    Collagen Type IV Variants and Kidney Cysts: Decoding the COL4A Puzzle.

    Published in:
    Genes, 2025, v. 16, n. 6, p. 642, doi. 10.3390/genes16060642
    By:
    • Rigato, Matteo;
    • Caprara, Carlotta;
    • Cabrera-Aguilar, J. Said;
    • Marzano, Nenzi;
    • Giuliani, Anna;
    • Mancini, Barbara;
    • Gastaldon, Fiorella;
    • Ronco, Claudio;
    • Zanella, Monica;
    • Zuccarello, Daniela;
    • Corradi, Valentina
    Publication type:
    Article
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    The Pattern of Polymorphism in Arabidopsis thaliana.

    Published in:
    PLoS Biology, 2005, v. 3, n. 5, p. 1, doi. 10.1371/journal.pbio.0030196
    By:
    • Nordborg, Magnus;
    • Hu, Tina T;
    • Ishino, Yoko;
    • Jhaveri, Jinal;
    • Toomajian, Christopher;
    • Zheng, Honggang;
    • Bakker, Erica;
    • Calabrese, Peter;
    • Gladstone, Jean;
    • Goyal, Rana;
    • Jakobsson, Mattias;
    • Kim, Sung;
    • Morozov, Yuri;
    • Padhukasahasram, Badri;
    • Plagnol, Vincent;
    • Rosenberg, Noah A;
    • Shah, Chitiksha;
    • Wall, Jeffrey D;
    • Wang, Jue;
    • Zhao, Keyan
    Publication type:
    Article
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