Works about NUCLEOTIDE sequencing

Results: 5000
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    Atypical spindle cell/pleomorphic lipomatous tumour: a clinicopathologic, immunohistochemical and molecular study of 55 cases, highlighting TP53 gene alterations as a genetic hallmark of atypical pleomorphic lipomatous tumour.

    Published in:
    Histopathology, 2025, v. 87, n. 2, p. 197, doi. 10.1111/his.15474
    By:
    • Cordier, Fleur;
    • Kleijn, Tony G;
    • Mentzel, Thomas;
    • Flucke, Uta;
    • van Gorp, Joost;
    • Ferdinande, Liesbeth;
    • Van Belle, Sarah;
    • Loontiens, Siebe;
    • Van der Meulen, Joni;
    • Van Dorpe, Jo;
    • Cleven, Arjen H G;
    • Creytens, David
    Publication type:
    Article
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    Unveiling the molecular landscape and clinically relevant molecular heterogeneity of mucosal melanoma of the head and neck region.

    Published in:
    Histopathology, 2025, v. 87, n. 2, p. 270, doi. 10.1111/his.15456
    By:
    • Ricci, Costantino;
    • Altavilla, Maria Vittoria;
    • de Biase, Dario;
    • Corti, Barbara;
    • Pasquini, Ernesto;
    • Molteni, Gabriele;
    • Tarsitano, Achille;
    • Baietti, Anna Maria;
    • Amorosa, Luca;
    • Ambrosi, Francesca;
    • Balbi, Tiziana;
    • Baldovini, Chiara;
    • Querzoli, Giulia;
    • D'Errico, Antonia;
    • Fiorentino, Michelangelo;
    • Tallini, Giovanni;
    • De Leo, Antonio;
    • Maloberti, Thais;
    • Massi, Daniela;
    • Ihrler, Stephan
    Publication type:
    Article
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    Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

    Published in:
    Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1580879
    By:
    • Malmgren, Helena;
    • Kvarnung, Malin;
    • Gustafsson, Peter;
    • Anderlid, Britt-Marie;
    • Arthur, Cecilia;
    • Carlsten, Jonas;
    • De Geer, Karl;
    • Ehn, Emma;
    • Grigelioniené, Giedre;
    • Hammarsjö, Anna;
    • Helgadottir, Hafdis T.;
    • Hellström-Pigg, Maritta;
    • Iwarsson, Erik;
    • Kuchinskaya, Ekaterina;
    • Lindelöf, Hillevi;
    • Mannila, Maria;
    • Nilsson, Daniel;
    • Pettersson, Maria;
    • Rudd, Eva;
    • Sahlin, Ellika
    Publication type:
    Article
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    Reading the DNA of telomeres.

    Published in:
    eLife, 2025, p. 1, doi. 10.7554/eLife.107648
    By:
    • ROY, SHAMAYITA;
    • AZZALIN, CLAUS M.
    Publication type:
    Article
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    Mutant p53 induces SH3BGRL expression to promote cell engulfment.

    Published in:
    Cell Death Discovery, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41420-025-02582-x
    By:
    • Dolma, Lobsang;
    • Patterson, Mary I.;
    • Banyard, Antonia;
    • Hall, Callum;
    • Bell, Steven;
    • Breitwieser, Wolfgang;
    • Sahoo, Sudhakar;
    • Weightman, John;
    • Gil, Maria Pazos;
    • Ashton, Garry;
    • Behan, Caron;
    • Fullard, Nicola;
    • Williams, Lewis D.;
    • Muller, Patricia AJ.
    Publication type:
    Article
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    From hyperplasia to carcinoma: a molecular driven adrenal disease.

    Published in:
    European Journal of Endocrinology, 2025, v. 192, n. 6, p. K55, doi. 10.1093/ejendo/lvaf105
    By:
    • Dybal, Elisa;
    • Decaussin-Petrucci, Myriam;
    • Descotes, Françoise;
    • Raverot, Gérald;
    • Lifante, Jean-Christophe;
    • Sajous, Christophe;
    • Lopez, Jonathan;
    • Lasolle, Hélène
    Publication type:
    Article
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    Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 108, n. 2, p. 224, doi. 10.1111/cge.14761
    By:
    • Parra, Alejandro;
    • Jimenez‐Estrada, Juan A.;
    • Vásquez‐Amell, Valeria;
    • Cazalla, Mario;
    • Rodríguez‐Canó, Manuel;
    • Gallego‐Zazo, Natalia;
    • Miranda, Lucia;
    • Mora‐Gómez, Mónica;
    • Vallespín, Elena;
    • Mena, Rocío;
    • Fernández, Luis;
    • Silván, Cristina;
    • Arias, Pedro;
    • Dominguez‐Jiménez, Marta;
    • Guillén‐Navarro, Encarna;
    • Nevado, Julián;
    • Tenorio‐Castano, Jair;
    • Ruiz‐Pérez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
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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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    Vertical transmission of Dengue virus type-3 and metagenomic virome profiles of Aedes aegypti mosquitoes collected in Kisumu, Kenya.

    Published in:
    PLoS ONE, 2025, v. 20, n. 7, p. 1, doi. 10.1371/journal.pone.0315492
    By:
    • Wanjiru, Tabitha;
    • Bulimo, Wallace;
    • Langat, Solomon;
    • Kinyua, Johnson;
    • Odemba, Nicholas;
    • Yalwala, Santos;
    • Oullo, David;
    • Ochieng, Richard;
    • Ngere, Francis;
    • Kerich, Gladys;
    • Ambale, Janet;
    • Achieng, Eunice;
    • Abuom, David;
    • Egbo, Timothy;
    • Johnson, Jaree;
    • Ojwang, Elly;
    • Eads, John;
    • Garges, Eric;
    • Eyase, Fredrick
    Publication type:
    Article
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    Clinical Outcome and Molecular Profile in Patients with DDX41 Mutation Hot-Spots.

    Published in:
    Hematology Reports, 2025, v. 17, n. 3, p. 26, doi. 10.3390/hematolrep17030026
    By:
    • Toumeh, Nadia;
    • Jabban, Yazan;
    • Nanaa, Ahmad;
    • He, Rong;
    • Viswanatha, David;
    • Jevremovic, Dragan;
    • Foran, James M.;
    • Arana Yi, Cecilia Y.;
    • Saliba, Antoine N.;
    • Hefazi Torghabeh, Mehrdad;
    • Hogan, William J.;
    • Shah, Mithun V.;
    • Mangaonkar, Abhishek A.;
    • Patnaik, Mrinal M.;
    • Alkhateeb, Hassan B.;
    • Al-Kali, Aref
    Publication type:
    Article
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