Works matching DE "MOLECULAR pathology"


Results: 3075
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    Neuropsychiatric and young-onset as clinical determinants for a delayed Huntington's disease diagnosis.

    Published in:
    Revista Mexicana de Neurociencia, 2023, v. 24, n. 2, p. 30, doi. 10.24875/rmn.22000055
    By:
    • Cervantes-Arriaga, Amin;
    • Garcia-Romero, David J.;
    • Munuzuri-Camacho, Marco;
    • Esquivel-Zapata, Oscar;
    • de Montellano, David Davila-Ortiz;
    • Martinez-Ruano, Leticia;
    • Hernandez-Medrano, Ana J.;
    • Ruiz-Mafud, Maria A.;
    • Cerda-Hernandez, Gloria I.;
    • Abundes-Corona, Arturo;
    • Rodriguez-Violante, Mayela
    Publication type:
    Article
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    Early-Onset Osteoporosis.

    Published in:
    Calcified Tissue International, 2022, v. 110, n. 5, p. 546, doi. 10.1007/s00223-021-00885-6
    By:
    • Mäkitie, Outi;
    • Zillikens, M. Carola
    Publication type:
    Article
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    Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas.

    Published in:
    Acta Neuropathologica, 2023, v. 146, n. 3, p. 499, doi. 10.1007/s00401-023-02613-w
    By:
    • Kaulen, Leon D.;
    • Denisova, Evgeniya;
    • Hinz, Felix;
    • Hai, Ling;
    • Friedel, Dennis;
    • Henegariu, Octavian;
    • Hoffmann, Dirk C.;
    • Ito, Jakob;
    • Kourtesakis, Alexandros;
    • Lehnert, Pascal;
    • Doubrovinskaia, Sofia;
    • Karschnia, Philipp;
    • von Baumgarten, Louisa;
    • Kessler, Tobias;
    • Baehring, Joachim M.;
    • Brors, Benedikt;
    • Sahm, Felix;
    • Wick, Wolfgang
    Publication type:
    Article
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    DNA methylation-based reclassification of olfactory neuroblastoma.

    Published in:
    Acta Neuropathologica, 2018, v. 136, n. 2, p. 255, doi. 10.1007/s00401-018-1854-7
    By:
    • Capper, David;
    • Engel, Nils W.;
    • Stichel, Damian;
    • Lechner, Matt;
    • Glöss, Stefanie;
    • Schmid, Simone;
    • Koelsche, Christian;
    • Schrimpf, Daniel;
    • Niesen, Judith;
    • Wefers, Annika K.;
    • Jones, David T. W.;
    • Sill, Martin;
    • Weigert, Oliver;
    • Ligon, Keith L.;
    • Olar, Adriana;
    • Koch, Arend;
    • Forster, Martin;
    • Moran, Sebastian;
    • Tirado, Oscar M.;
    • Sáinz-Jaspeado, Miguel
    Publication type:
    Article
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    Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency.

    Published in:
    Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2024, v. 5, n. 2, p. 205, doi. 10.1515/almed-2023-0102
    By:
    • Jasinge, Eresha;
    • Fernando, Mihika;
    • Indika, Neluwa-Liyanage Ruwan;
    • Ratnayake, Pyara Dilani;
    • Gamaathige, Nalin;
    • Ratnaranjith, Ratnanathan;
    • Schroeder, Sabine;
    • Jones, Patricia;
    • Volha, Skrahina;
    • Jayasena, Subhashinie;
    • Gunaratna, Anusha Varuni;
    • Bandara Ekanayake, Asitha Niroshana;
    • Rolfs, Arndt
    Publication type:
    Article
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    Control of occult hepatitis B virus infection.

    Published in:
    Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2022, v. 3, n. 4, p. 321, doi. 10.1515/almed-2022-0065
    By:
    • Lalana Garcés, Marta;
    • Ortiz Pastor, Oihana;
    • Solé Enrech, Gemma;
    • Guerra-Ruiz, Armando R.;
    • Casals Mercadal, Gregori;
    • Almería Lafuente, Alejandro;
    • Ballesteros Vizoso, María Antonieta;
    • Medina, Pablo Gabriel;
    • Salgüero Fernández, Sergio;
    • Zamora Trillo, Angielys;
    • Aured de la Serna, Isabel;
    • Hurtado, Juan Carlos;
    • Pérez-Del-Pulgar, Sofía;
    • Forns, Xavier;
    • Morales Ruiz, Manuel
    Publication type:
    Article
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    Integrated laboratory networks.

    Published in:
    Medical Laboratory Observer (MLO), 1999, v. 31, n. 2, p. 18
    By:
    • Schumm, Christine;
    • Thurston, William H.;
    • Weiss, Ronald L.
    Publication type:
    Article
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    Discovering a trans-omics biomarker signature that predisposes high risk diabetic patients to diabetic kidney disease.

    Published in:
    NPJ Digital Medicine, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s41746-022-00713-7
    By:
    • Wu, I-Wen;
    • Tsai, Tsung-Hsien;
    • Lo, Chi-Jen;
    • Chou, Yi-Ju;
    • Yeh, Chi-Hsiao;
    • Chan, Yun-Hsuan;
    • Chen, Jun-Hong;
    • Hsu, Paul Wei-Che;
    • Pan, Heng-Chih;
    • Hsu, Heng-Jung;
    • Chen, Chun-Yu;
    • Lee, Chin-Chan;
    • Shyu, Yu-Chiau;
    • Lin, Chih-Lang;
    • Cheng, Mei-Ling;
    • Lai, Chi-Chun;
    • Sytwu, Huey-Kang;
    • Tsai, Ting-Fen
    Publication type:
    Article
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    NLRP3 has a sweet tooth.

    Published in:
    Nature Immunology, 2010, v. 11, n. 2, p. 105, doi. 10.1038/ni0210-105
    By:
    • Davis, Beckley K.;
    • Ting, Jenny Pan-Yun
    Publication type:
    Article
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    Recent therapeutic developments in spinal muscular atrophy.

    Published in:
    Turkish Journal of Medical Sciences, 2018, v. 48, n. 2, p. 203, doi. 10.3906/sag-1712-1
    By:
    • BORA, Gamze;
    • YEŞBEK KAYMAZ, Ayşe;
    • BEKİRCAN KURT, Can Ebru;
    • HALİLOĞLU, Vildan Göknur;
    • TOPALOĞLU, Haluk Aydın;
    • ERDEM YURTER, Hayat;
    • ERDEM ÖZDAMAR, Sevim
    Publication type:
    Article
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    The Impact of Prior Single-Gene Testing on Comprehensive Genomic Profiling Results for Patients with Non-Small Cell Lung Cancer.

    Published in:
    Oncology & Therapy, 2024, v. 12, n. 2, p. 329, doi. 10.1007/s40487-024-00270-x
    By:
    • Nesline, Mary K.;
    • Subbiah, Vivek;
    • Previs, Rebecca A.;
    • Strickland, Kyle C.;
    • Ko, Heidi;
    • DePietro, Paul;
    • Biorn, Michael D.;
    • Cooper, Maureen;
    • Wu, Nini;
    • Conroy, Jeffrey;
    • Pabla, Sarabjot;
    • Zhang, Shengle;
    • Wallen, Zachary D.;
    • Sathyan, Pratheesh;
    • Saini, Kamal;
    • Eisenberg, Marcia;
    • Caveney, Brian;
    • Severson, Eric A.;
    • Ramkissoon, Shakti
    Publication type:
    Article
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