Works matching DE "GENES"

Results: 5000
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    Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 6, p. 705, doi. 10.1111/cge.14725
    By:
    • Essid, Miriam;
    • Karoui, Sana;
    • Zribi, Mouna;
    • Ben Younes, Thouraya;
    • Januel, Louis;
    • Lafont, Estelle;
    • Labalme, Audrey;
    • Ben Hafsa, Meriem;
    • Hun Seo, Go;
    • Khatrouch, Safa;
    • Boudabous, Hela;
    • Ben Chehida, Amel;
    • Sanlaville, Damien;
    • Jilani, Houweyda;
    • Benjemaa, Lamia;
    • Kraoua, Ichraf;
    • Lesca, Gaetan;
    • Chatron, Nicolas
    Publication type:
    Article
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    Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 6, p. 646, doi. 10.1111/cge.14701
    By:
    • Trujillano, Laura;
    • Valenzuela, Irene;
    • Costa‐Roger, Mar;
    • Cuscó, Ivon;
    • Fernandez‐Alvarez, Paula;
    • Cueto‐González, Anna;
    • Lasa‐Aranzasti, Amaia;
    • Masotto, Bárbara;
    • Abulí, Anna;
    • Codina‐Solà, Marta;
    • del Campo, Miguel;
    • Ruiz Moreno, Juan Antonio;
    • Pardo Domínguez, Cristina;
    • Palma Milla, Carmen;
    • Pérez de la Fuente, Rubén;
    • Quesada‐Espinosa, Juan Francisco;
    • Núñez‐Enamorado, Noemí;
    • Gener, Blanca;
    • Ballesta‐Martínez, María Juliana;
    • Brea‐Fernández, Alejandro J.
    Publication type:
    Article
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    Post-fertilization transcription initiation in an ancestral LTR retrotransposon drives lineage- specific genomic imprinting of ZDBF2.

    Published in:
    eLife, 2025, p. 1, doi. 10.7554/eLife.94502
    By:
    • Hisato Kobayashi;
    • Tatsushi Igaki;
    • Soichiro Kumamoto;
    • Keisuke Tanaka;
    • Tomoya Takashima;
    • Nagaoka, So I.;
    • Shunsuke Suzuki;
    • Masaaki Hayashi;
    • Renfree, Marilyn B.;
    • Manabu Kawahara;
    • Shun Saito;
    • Toshihiro Kobayashi;
    • Hiroshi Nagashima;
    • Hitomi Matsunari;
    • Kazuaki Nakano;
    • Ayuko Uchikura;
    • Hiroshi Kiyonari;
    • Mari Kaneko;
    • Hiroo Imai;
    • Kazuhiko Nakabayashi
    Publication type:
    Article
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