Works matching IS 20734425 AND DT 2023 AND VI 14 AND IP 3

Results: 240
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    Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies.

    Published in:
    Genes, 2023, v. 14, n. 3, p. 764, doi. 10.3390/genes14030764
    By:
    • Zacchia, Miriam;
    • Capolongo, Giovanna;
    • Del Vecchio Blanco, Francesca;
    • Secondulfo, Floriana;
    • Gupta, Neha;
    • Blasio, Giancarlo;
    • Pollastro, Rosa Maria;
    • Cervesato, Angela;
    • Piluso, Giulio;
    • Gigliotti, Giuseppe;
    • Torella, Annalaura;
    • Nigro, Vincenzo;
    • Perna, Alessandra F.;
    • Capasso, Giovambattista;
    • Trepiccione, Francesco
    Publication type:
    Article
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    Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13 , 2110.

    Published in:
    2023
    By:
    • Noguchi, Yoriko;
    • Bo, Ryosuke;
    • Nishio, Hisahide;
    • Matsumoto, Hisayuki;
    • Matsui, Keiji;
    • Yano, Yoshihiko;
    • Sugawara, Masami;
    • Ueda, Go;
    • Wijaya, Yogik Onky Silvana;
    • Niba, Emma Tabe Eko;
    • Shinohara, Masakazu;
    • Bouike, Yoshihiro;
    • Takeuchi, Atsuko;
    • Okamoto, Kentaro;
    • Saito, Toshio;
    • Shimomura, Hideki;
    • Lee, Tomoko;
    • Takeshima, Yasuhiro;
    • Iijima, Kazumoto;
    • Nozu, Kandai
    Publication type:
    Correction Notice
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    Past Connectivity but Recent Inbreeding in Cross River Gorillas Determined Using Whole Genomes from Single Hairs.

    Published in:
    Genes, 2023, v. 14, n. 3, p. 743, doi. 10.3390/genes14030743
    By:
    • Alvarez-Estape, Marina;
    • Pawar, Harvinder;
    • Fontsere, Claudia;
    • Trujillo, Amber E.;
    • Gunson, Jessica L.;
    • Bergl, Richard A.;
    • Bermejo, Magdalena;
    • Linder, Joshua M.;
    • McFarland, Kelley;
    • Oates, John F.;
    • Sunderland-Groves, Jacqueline L.;
    • Orkin, Joseph;
    • Higham, James P.;
    • Viaud-Martinez, Karine A.;
    • Lizano, Esther;
    • Marques-Bonet, Tomas
    Publication type:
    Article
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    The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.

    Published in:
    Genes, 2023, v. 14, n. 3, p. 739, doi. 10.3390/genes14030739
    By:
    • Pietrobattista, Andrea;
    • Della Volpe, Luca;
    • Francalanci, Paola;
    • Figà Talamanca, Lorenzo;
    • Monti, Lidia;
    • Lepri, Francesca Romana;
    • Basso, Maria Sole;
    • Liccardo, Daniela;
    • Della Corte, Claudia;
    • Mosca, Antonella;
    • Alterio, Tommaso;
    • Veraldi, Silvio;
    • Callea, Francesco;
    • Novelli, Antonio;
    • Maggiore, Giuseppe
    Publication type:
    Article
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    Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

    Published in:
    Genes, 2023, v. 14, n. 3, p. 717, doi. 10.3390/genes14030717
    By:
    • Hotz, Alrun;
    • Kopp, Julia;
    • Bourrat, Emmanuelle;
    • Oji, Vinzenz;
    • Süßmuth, Kira;
    • Komlosi, Katalin;
    • Bouadjar, Bakar;
    • Tantcheva-Poór, Iliana;
    • Hellström Pigg, Maritta;
    • Betz, Regina C.;
    • Giehl, Kathrin;
    • Schedel, Fiona;
    • Weibel, Lisa;
    • Schulz, Solveig;
    • Stölzl, Dora V.;
    • Tadini, Gianluca;
    • Demiral, Emine;
    • Berggard, Karin;
    • Zimmer, Andreas D.;
    • Alter, Svenja
    Publication type:
    Article