Works matching IS 20734425 AND DT 2023 AND VI 14 AND IP 6


Results: 181
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    Inherited Reticulate Pigmentary Disorders.

    Published in:
    Genes, 2023, v. 14, n. 6, p. 1300, doi. 10.3390/genes14061300
    By:
    • Lin, Min-Huei;
    • Chou, Pei-Chen;
    • Lee, I-Chen;
    • Yang, Syuan-Fei;
    • Yu, Hsin-Su;
    • Yu, Sebastian
    Publication type:
    Article
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    7p22.2 Microduplication: A Pathogenic CNV?

    Published in:
    2023
    By:
    • Bauleo, Alessia;
    • Montesanto, Alberto;
    • Pace, Vincenza;
    • Guarasci, Francesco;
    • Apa, Rosalbina;
    • Brando, Rossella;
    • De Stefano, Laura;
    • Sestito, Simona;
    • Concolino, Daniela;
    • Falcone, Elena
    Publication type:
    Case Study
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    Enhancer Function in the 3D Genome.

    Published in:
    Genes, 2023, v. 14, n. 6, p. 1277, doi. 10.3390/genes14061277
    By:
    • Razin, Sergey V.;
    • Ulianov, Sergey V.;
    • Iarovaia, Olga V.
    Publication type:
    Article
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    Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family.

    Published in:
    Genes, 2023, v. 14, n. 6, p. 1275, doi. 10.3390/genes14061275
    By:
    • Concolino, Paola;
    • De Paolis, Elisa;
    • Moffa, Simona;
    • Onori, Maria Elisabetta;
    • Soldovieri, Laura;
    • Ricciardi Tenore, Claudio;
    • De Bonis, Maria;
    • Rabacchi, Claudio;
    • Santonocito, Concetta;
    • Rinelli, Martina;
    • Calandra, Sebastiano;
    • Giaccari, Andrea;
    • Urbani, Andrea;
    • Minucci, Angelo
    Publication type:
    Article
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    Genetic Variants of Gonadotropins and Their Receptors Could Influence Controlled Ovarian Stimulation: IVF Data from a Prospective Multicenter Study.

    Published in:
    Genes, 2023, v. 14, n. 6, p. 1269, doi. 10.3390/genes14061269
    By:
    • Alviggi, Carlo;
    • Longobardi, Salvatore;
    • Papaleo, Enrico;
    • Santi, Daniele;
    • Alfano, Simona;
    • Vanni, Valeria Stella;
    • Campitiello, Maria Rosaria;
    • De Rosa, Pasquale;
    • Strina, Ida;
    • Huhtaniemi, Ilpo;
    • Pursiheimo, Juha-Pekka;
    • D'Hooghe, Thomas;
    • Humaidan, Peter;
    • Conforti, Alessandro
    Publication type:
    Article
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