Works matching DE "GENETIC variation"


Results: 5000
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    Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 108, n. 2, p. 224, doi. 10.1111/cge.14761
    By:
    • Parra, Alejandro;
    • Jimenez‐Estrada, Juan A.;
    • Vásquez‐Amell, Valeria;
    • Cazalla, Mario;
    • Rodríguez‐Canó, Manuel;
    • Gallego‐Zazo, Natalia;
    • Miranda, Lucia;
    • Mora‐Gómez, Mónica;
    • Vallespín, Elena;
    • Mena, Rocío;
    • Fernández, Luis;
    • Silván, Cristina;
    • Arias, Pedro;
    • Dominguez‐Jiménez, Marta;
    • Guillén‐Navarro, Encarna;
    • Nevado, Julián;
    • Tenorio‐Castano, Jair;
    • Ruiz‐Pérez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
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    CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

    Published in:
    Clinical Genetics, 2025, v. 108, n. 2, p. 146, doi. 10.1111/cge.14726
    By:
    • Contrò, Gianluca;
    • Baroni, Maria Chiara;
    • Caraffi, Stefano Giuseppe;
    • Napoli, Manuela;
    • Artuso, Rosangela;
    • Giliberti, Annarita;
    • Bargiacchi, Sara;
    • Mancano, Giorgia;
    • Traficante, Giovanna;
    • Mucciolo, Mafalda;
    • Radio, Francesca Clementina;
    • Cordeddu, Viviana;
    • Mancini, Cecilia;
    • Bottillo, Irene;
    • Pirro, Federica Anna;
    • Bonati, Maria Teresa;
    • Becker, Cord‐Christian;
    • Carli, Diana;
    • Mussa, Alessandro;
    • Gonzalez, Maria Isis Atallah
    Publication type:
    Article
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    Improving Information on Over-looked Generalists: Occurrence and Mitochondrial DNA Diversity of Campbell's (Cercopithecus campbelli) and Green Monkeys (Chlorocebus sabaeus) in Guinea–Bissau, West Africa.

    Published in:
    International Journal of Primatology, 2025, v. 46, n. 3, p. 785, doi. 10.1007/s10764-025-00496-0
    By:
    • Colmonero-Costeira, Ivo;
    • Djaló, Saidil Lamine;
    • Fernandes, Nelson;
    • Borges, Filipa;
    • Aleixo-Pais, Isa;
    • Gerini, Federica;
    • Costa, Mafalda;
    • Minhós, Tânia;
    • Ferreira da Silva, Maria Joana
    Publication type:
    Article
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    Sex-mediated Gene Flow in Grayfoot Chacma Baboons (Papio ursinus griseipes) in Gorongosa National Park, Mozambique.

    Published in:
    International Journal of Primatology, 2025, v. 46, n. 3, p. 705, doi. 10.1007/s10764-025-00494-2
    By:
    • Ferreira da Silva, Maria Joana;
    • Tralma, Paula;
    • Colmonero-Costeira, Ivo;
    • Cravo-Mota, Mariana;
    • Farassi, Rassina;
    • Hammond, Philippa;
    • Lewis-Bevan, Lynn;
    • Bamford, Marion K.;
    • Biro, Dora;
    • Lüdecke, Tina;
    • Mathe, Jacinto;
    • Bobe, René;
    • Capelli, Cristian;
    • Carvalho, Susana;
    • Martínez, Felipe I.
    Publication type:
    Article
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    Genomic surveillance reveals geographical heterogeneity and differences in known and novel insecticide resistance mechanisms in Anopheles arabiensis across Kenya.

    Published in:
    BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11788-3
    By:
    • Polo, Brian;
    • Bennett, Kelly L.;
    • Barasa, Sonia;
    • Brenas, Jon;
    • Agumba, Silas;
    • Mwangangi, Joseph;
    • Wachira, Lucy;
    • Kitur, Stanley;
    • Matoke-Muhia, Damaris;
    • Mburu, David M.;
    • Ramaita, Edith;
    • Juma, Elijah O.;
    • Mbogo, Charles;
    • Ochomo, Eric;
    • Clarkson, Chris S.;
    • Miles, Alistair;
    • Kamau, Luna
    Publication type:
    Article
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    Survey of Piroplasmids in Wild Mammals, Unconventional Pets, and Ticks from Goiás State, Midwestern Brazil.

    Published in:
    Pathogens, 2025, v. 14, n. 6, p. 585, doi. 10.3390/pathogens14060585
    By:
    • Bittencourt, Raphaela Bueno Mendes;
    • Calchi, Ana Cláudia;
    • Neves, Lucianne Cardoso;
    • de Lima, Nicolas Jalowitzki;
    • dos Santos, Gabriel Cândido;
    • Cardoso, Ennya Rafaella Neves;
    • Paula, Warley Vieira de Freitas;
    • Araújo, Luciana Batalha de Miranda;
    • Gonçalves, Jessica Rocha;
    • Sobreira, Elisângela de Albuquerque;
    • Baptista, Luiz Alfredo Martins Lopes;
    • Luz, Hermes Ribeiro;
    • André, Marcos Rogério;
    • Dantas-Torres, Filipe;
    • Krawczak, Felipe da Silva
    Publication type:
    Article
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    Molecular Survey of Hemopathogens in Bats from the Western Brazilian Amazon.

    Published in:
    Pathogens, 2025, v. 14, n. 6, p. 527, doi. 10.3390/pathogens14060527
    By:
    • da Silva, Abraão Isaque;
    • Franco, Eliz Oliveira;
    • Calchi, Ana Cláudia;
    • dos Santos, Francisco Chagas Bezerra;
    • Verde, Rair de Sousa;
    • de Mello, Victória Valente Califre;
    • Lee, Daniel Antônio Braga;
    • Secato, Caroline Tostes;
    • Dias, Clara Morato;
    • Machado, Rosangela Zacarias;
    • Roque, André Luiz Rodrigues;
    • André, Marcos Rogério
    Publication type:
    Article
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