Works matching Mosaicism

Results: 5000
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    Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome.

    Published in:
    Frontiers in Immunology, 2024, p. 01, doi. 10.3389/fimmu.2024.1451212
    By:
    • Orellana, Halyn;
    • Jia Yan;
    • Paul, Alex;
    • Mari Tokita;
    • Yan Ding;
    • Ghosh, Rajarshi;
    • Lewis, Katie L.;
    • Davis;
    • Jamal, Leila;
    • Jodarski, Colleen;
    • Similuk, Morgan;
    • Saucier, Nermina;
    • Zhanyang Zhu;
    • Yihe Wang;
    • Sitao Wu;
    • Ruggieri, Jason;
    • Su, Helen C.;
    • Uzel, Gulbu;
    • Nahas, Shareef;
    • Cooper, Megan
    Publication type:
    Article
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    Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review.

    Published in:
    BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01382-x
    By:
    • Martínez-Hernández, A.;
    • Martínez-Anaya, D.;
    • Durán-McKinster, C.;
    • Del Castillo-Ruiz, V.;
    • Navarrete-Meneses, P.;
    • Córdova, E. J.;
    • Villegas-Torres, B. E.;
    • Ruiz-Herrera, A.;
    • Juárez-Velázquez, R.;
    • Yokoyama-Rebollar, E.;
    • Cervantes-Barragán, D.;
    • Pedraza-Meléndez, A.;
    • Orozco, L.;
    • Pérez-Vera, P.;
    • Salas-Labadía, C.
    Publication type:
    Article
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    Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study.

    Published in:
    International Journal of Fertility & Sterility, 2025, v. 19, n. 1, p. 58, doi. 10.22074/ijfs.2024.2018140.1592
    By:
    • Harzif, Achmad Kemal;
    • Ikhsan, Muhammad;
    • Iffanolida, Pritta Ameilia;
    • Mutia, Kresna;
    • Wiweko, Budi;
    • Muharam, R.;
    • Sumapraja, Kanadi;
    • Pratama, Gita;
    • Maidarti, Mila;
    • Silvana, Vita;
    • Shadrina, Amalia;
    • Febriana, Irene Sinta;
    • Ummah, Nafi'atul;
    • Puspawardani, Aisyah Retno;
    • Hestiantoro., Andon
    Publication type:
    Article
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    Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.

    Published in:
    2019
    By:
    • Salas-Labadía, C.;
    • Gómez-Carmona, S.;
    • Cruz-Alcívar, R.;
    • Martínez-Anaya, D.;
    • Del Castillo-Ruiz, V.;
    • Durán-McKinster, C.;
    • Ulloa-Avilés, V.;
    • Yokoyama-Rebollar, E.;
    • Ruiz-Herrera, A.;
    • Navarrete-Meneses, P.;
    • Lieberman-Hernández, E.;
    • González-Del Angel, A.;
    • Cervantes-Barragán, D.;
    • Villarroel-Cortés, C.;
    • Reyes-León, A.;
    • Suárez-Pérez, D.;
    • Pedraza-Meléndez, A.;
    • González-Orsuna, A.;
    • Pérez-Vera, P.
    Publication type:
    journal article
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