Works about RECESSIVE genes

Results: 2108
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    Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

    Published in:
    Fetal Diagnosis & Therapy, 2024, v. 51, n. 3, p. 285, doi. 10.1159/000536324
    By:
    • Senturk, Leyli;
    • Gulec, Cagri;
    • Sarac Sivrikoz, Tugba;
    • Kayserili, Hulya;
    • Kalelioglu, Ibrahim Halil;
    • Avci, Sahin;
    • Has, Recep;
    • Coucke, Paul;
    • Kalayci, Tugba;
    • Wollnik, Bernd;
    • Karaman, Birsen;
    • Toksoy, Guven;
    • Symoens, Sofie;
    • Yigit, Gokhan;
    • Yuksel, Atil;
    • Basaran, Seher;
    • Tuysuz, Beyhan;
    • Altunoglu, Umut;
    • Uyguner, Zehra Oya
    Publication type:
    Article
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    Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.

    Published in:
    Journal of Clinical Medicine, 2022, v. 11, n. 1, p. 22, doi. 10.3390/jcm11010022
    By:
    • Bermejo-Guerrero, Laura;
    • de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
    • Serrano-Lorenzo, Pablo;
    • Blázquez-Encinar, Alberto;
    • Gutiérrez-Gutiérrez, Gerardo;
    • Martínez-Vicente, Laura;
    • Galán-Dávila, Lucía;
    • García-García, Jorge;
    • Arenas, Joaquín;
    • Muelas, Nuria;
    • Hernández-Laín, Aurelio;
    • Domínguez-González, Cristina;
    • Martín, Miguel A.
    Publication type:
    Article
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    Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 6, p. 1886, doi. 10.3390/jcm9061886
    By:
    • Lee, You-Kyung;
    • Hwang, Su-Kyeong;
    • Lee, Soo-Kyung;
    • Yang, Jung-eun;
    • Kwak, Ji-Hye;
    • Seo, Hyunhyo;
    • Ahn, Hyunjun;
    • Lee, Yong-Seok;
    • Kim, Janghwan;
    • Lim, Chae-Seok;
    • Kaang, Bong-Kiun;
    • Lee, Jae-Hyung;
    • Lee, Jin-A;
    • Lee, Kyungmin
    Publication type:
    Article
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    Hydrocephalic Monster in a non Descript Buffalo.

    Published in:
    Indian Journal of Veterinary Sciences & Biotechnology, 2018, v. 14, n. 2, p. 76, doi. 10.21887/ijvsbt.14.2.20
    By:
    • Patil, A. D.;
    • Lakde, C. K.;
    • Sahatpure, S. K.;
    • Chandini;
    • Kamaljit
    Publication type:
    Article
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    Pseudodominance in RFC1-Spectrum Disorder.

    Published in:
    Cerebellum, 2024, v. 23, n. 6, p. 2622, doi. 10.1007/s12311-024-01735-5
    By:
    • Falcone, Grazia Maria Igea;
    • Tessa, Alessandra;
    • Arena, Ignazio Giuseppe;
    • Barghigiani, Melissa;
    • Migliorato, Alba;
    • Incensi, Alex;
    • Rodolico, Carmelo;
    • Donadio, Vincenzo;
    • Santorelli, Filippo Maria;
    • Musumeci, Olimpia
    Publication type:
    Article
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    Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys.

    Published in:
    Antioxidants, 2023, v. 12, n. 4, p. 900, doi. 10.3390/antiox12040900
    By:
    • Airik, Merlin;
    • Arbore, Haley;
    • Childs, Elizabeth;
    • Huynh, Amy B.;
    • Phua, Yu Leng;
    • Chen, Chi Wei;
    • Aird, Katherine;
    • Bharathi, Sivakama;
    • Zhang, Bob;
    • Conlon, Peter;
    • Kmoch, Stanislav;
    • Kidd, Kendrah;
    • Bleyer, Anthony J.;
    • Vockley, Jerry;
    • Goetzman, Eric;
    • Wipf, Peter;
    • Airik, Rannar
    Publication type:
    Article
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    Lymphomas in swine - a review.

    Published in:
    Porcine Research, 2019, v. 9, n. 1, p. 34
    By:
    • Popa, Roxana;
    • Toma, Corina;
    • Marica, Raluca;
    • Biriș, Alexandra;
    • Tăbăran, Flaviu
    Publication type:
    Article