Works matching DE "GENETIC mutation"

Results: 5000
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    Mosaicism in Two Patients with COPA Syndrome.

    Published in:
    2025
    By:
    • Tusseau, Maud;
    • Hatchuel, Yves;
    • Rames, Cynthia;
    • de Becdelievre, Alix;
    • Belot, Alexandre;
    • Auboiroux, Celine;
    • David, Clémence;
    • Djeddi, Djamal;
    • Fanen, Pascale;
    • Frémond, Marie-Louise;
    • Mathieu, Fanny;
    • Randriamiarisoa, Daddy
    Publication type:
    Letter
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    Predicting telomerase reverse transcriptase promoter mutation in glioma: A systematic review and diagnostic meta-analysis on machine learning algorithms.

    Published in:
    Neuroradiology Journal, 2025, v. 38, n. 3, p. 265, doi. 10.1177/19714009241269526
    By:
    • Habibi, Mohammad Amin;
    • Dinpazhouh, Ali;
    • Aliasgary, Aliakbar;
    • Mirjani, Mohammad Sina;
    • Mousavinasab, Mehdi;
    • Ahmadi, Mohammad Reza;
    • Minaee, Poriya;
    • Eazi, SeyedMohammad;
    • Shafizadeh, Milad;
    • Gurses, Muhammet Enes;
    • Lu, Victor M;
    • Berke, Chandler N;
    • Ivan, Michael E;
    • Komotar, Ricardo J;
    • Shah, Ashish H
    Publication type:
    Article
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    Colorectal Cancers and Microsatellite Instability.

    Published in:
    Turkish Journal of Oncology / Türk Onkoloji Dergisi, 2025, v. 40, n. 1, p. 83, doi. 10.5505/tjo.2024.4477
    By:
    • ESMKHANI, Sahra;
    • EMREM, Mustafa;
    • ŞAHIN, Ali;
    • BABAYEV, Hüseyn;
    • ZEYNELOĞLU, Can;
    • ARDIÇLI, Sena;
    • YAZICI, Hilal;
    • YAZICI, Hülya
    Publication type:
    Article
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    Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B.

    Published in:
    Annals of Clinical & Translational Neurology, 2025, v. 12, n. 5, p. 947, doi. 10.1002/acn3.70014
    By:
    • Coulborn, Sean;
    • Schafer, Rhiana;
    • Roy, Ashlin R. K.;
    • Sokolowski, Andrzej;
    • Cryns, Noah G.;
    • Leichter, Dana;
    • Lago, Argentina Lario;
    • Ramos, Eliana Marisa;
    • Cobigo, Yann;
    • Spina, Salvatore;
    • Grinberg, Lea T.;
    • Geschwind, Daniel H.;
    • Gorno‐Tempini, Maria L.;
    • Kramer, Joel H.;
    • Rosen, Howard J.;
    • Miller, Bruce L.;
    • Seeley, William W.;
    • Perry, David C.
    Publication type:
    Article
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    Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD.

    Published in:
    Annals of Clinical & Translational Neurology, 2025, v. 12, n. 5, p. 915, doi. 10.1002/acn3.52295
    By:
    • Gonzalez, Maria Camila;
    • Oftedal, Linn;
    • Lange, Johannes;
    • Tovar‐Rios, Diego Alejandro;
    • Tysnes, Ole‐Bjørn;
    • Paquet, Claire;
    • Marquié, Marta;
    • Boada, Mercè;
    • Alcolea, Daniel;
    • Rejdak, Konrad;
    • Papuc, Ewa;
    • Hort, Jakub;
    • Falup‐Pecurariu, Cristian;
    • Aarsland, Dag;
    • Alves, Guido;
    • Maple‐Grødem, Jodi
    Publication type:
    Article
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    Associations between pathological features and radioactive iodine-refractory recurrent papillary thyroid carcinoma: with mutation analysis using recurrent samples.

    Published in:
    BMC Endocrine Disorders, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12902-025-01954-9
    By:
    • Nguyen, Thi Nhung;
    • Mussazhanova, Zhanna;
    • Kurohama, Hirokazu;
    • Hoang, Van Dong;
    • Le, Ngoc Ha;
    • Ngo, Thi Minh Hanh;
    • Nguyen, Van Phu Thang;
    • Matsuda, Katsuya;
    • Matsuoka, Yuki;
    • Tratsiakova, Katsiaryna;
    • Nguyen, Thi Ngoc Anh;
    • Sailaubekova, Yerkezhan;
    • Nguyen, Thi Phuong;
    • Le, Minh Son;
    • Nakashima, Masahiro
    Publication type:
    Article
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    Increased Expression of RCN1P2, TPM3P9, and HSP90AB3P as Non-Coding RNA in Gastric Cancer Linked to Proliferative, Inflammatory and Metastatic Pathways through a Competing Endogenous RNAs Network.

    Published in:
    Iranian Journal of Public Health, 2025, v. 54, n. 5, p. 1074, doi. 10.18502/ijph.v54i5.18642
    By:
    • Sadeghi, Ensieh Sagheb;
    • Bioky, Zahra Amrollahy;
    • Hokmabadi, Mahsa;
    • Asadollahi, Samira;
    • Sarhadi, Fatemeh;
    • Dolatabadi, Nasrin Fattahi;
    • Zamani, Atefeh;
    • Mahdevar, Mohammad;
    • Peymani, Maryam
    Publication type:
    Article
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