Works matching IS 20567944 AND DT 2021 AND VI 6 AND IP 1

Results: 109
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    Incidental findings from cancer next generation sequencing panels.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00224-6
    By:
    • Maani, Nika;
    • Panabaker, Karen;
    • McCuaig, Jeanna M.;
    • Buckley, Kathleen;
    • Semotiuk, Kara;
    • Farncombe, Kirsten M.;
    • Ainsworth, Peter;
    • Panchal, Seema;
    • Sadikovic, Bekim;
    • Armel, Susan Randall;
    • Lin, Hanxin;
    • Kim, Raymond H.
    Publication type:
    Article
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    TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00220-w
    By:
    • Schmidt, Axel;
    • Peters, Sophia;
    • Knaus, Alexej;
    • Sabir, Hemmen;
    • Hamsen, Frauke;
    • Maj, Carlo;
    • Fazaal, Julia;
    • Sivalingam, Sugirthan;
    • Savchenko, Oleksandr;
    • Mantri, Aakash;
    • Holzinger, Dirk;
    • Neudorf, Ulrich;
    • Müller, Andreas;
    • Ludwig, Kerstin U.;
    • Krawitz, Peter M.;
    • Engels, Hartmut;
    • Nöthen, Markus M.;
    • Bagci, Soyhan
    Publication type:
    Article
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    Genetic discrimination: introducing the Asian perspective to the debate.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00218-4
    By:
    • Kim, Hannah;
    • Ho, Calvin W. L.;
    • Ho, Chih-Hsing;
    • Athira, P. S.;
    • Kato, Kazuto;
    • De Castro, Leonardo;
    • Kang, Hui;
    • Huxtable, Richard;
    • Zwart, Hub;
    • Ives, Jonathan;
    • Lee, Ilhak;
    • Joly, Yann;
    • Kim, So Yoon
    Publication type:
    Article
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    Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00214-8
    By:
    • Sangermano, Riccardo;
    • Deitch, Iris;
    • Peter, Virginie G.;
    • Ba-Abbad, Rola;
    • Place, Emily M.;
    • Zampaglione, Erin;
    • Wagner, Naomi E.;
    • Fulton, Anne B.;
    • Coutinho-Santos, Luisa;
    • Rosin, Boris;
    • Dunet, Vincent;
    • AlTalbishi, Ala'a;
    • Banin, Eyal;
    • Sousa, Ana Berta;
    • Neves, Mariana;
    • Larson, Anna;
    • Quinodoz, Mathieu;
    • Michaelides, Michel;
    • Ben-Yosef, Tamar;
    • Pierce, Eric A.
    Publication type:
    Article
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    Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00210-y
    By:
    • Ichikawa, Daisuke;
    • Yamashita, Kyoko;
    • Okuno, Yusuke;
    • Muramatsu, Hideki;
    • Murakami, Norihiro;
    • Suzuki, Kyogo;
    • Kojima, Daiei;
    • Kataoka, Shinsuke;
    • Hamada, Motoharu;
    • Taniguchi, Rieko;
    • Nishikawa, Eri;
    • Kawashima, Nozomu;
    • Narita, Atsushi;
    • Nishio, Nobuhiro;
    • Hama, Asahito;
    • Kasai, Kenji;
    • Mizuno, Seiji;
    • Shimoyama, Yoshie;
    • Nakaguro, Masato;
    • Okita, Hajime
    Publication type:
    Article
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    Genome-wide DNA methylation analysis on C-reactive protein among Ghanaians suggests molecular links to the emerging risk of cardiovascular diseases.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00213-9
    By:
    • Chilunga, Felix P.;
    • Henneman, Peter;
    • Venema, Andrea;
    • Meeks, Karlijn A. C.;
    • Requena-Méndez, Ana;
    • Beune, Erik;
    • Mockenhaupt, Frank P.;
    • Smeeth, Liam;
    • Bahendeka, Silver;
    • Danquah, Ina;
    • Klipstein-Grobusch, Kerstin;
    • Adeyemo, Adebowale;
    • Mannens, Marcel M.A.M;
    • Agyemang, Charles
    Publication type:
    Article
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    Telomere biology disorders.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00198-5
    By:
    • Kam, Michelle L. W.;
    • Nguyen, Trang T. T.;
    • Ngeow, Joanne Y. Y.
    Publication type:
    Article
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    Genetic basis of hypercholesterolemia in adults.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00190-z
    By:
    • Saadatagah, Seyedmohammad;
    • Jose, Merin;
    • Dikilitas, Ozan;
    • Alhabi, Lubna;
    • Miller, Alexandra A.;
    • Fan, Xiao;
    • Olson, Janet E.;
    • Kochan, David C.;
    • Safarova, Maya;
    • Kullo, Iftikhar J.
    Publication type:
    Article
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    Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00188-7
    By:
    • Martinez-Granero, Francisco;
    • Blanco-Kelly, Fiona;
    • Sanchez-Jimeno, Carolina;
    • Avila-Fernandez, Almudena;
    • Arteche, Ana;
    • Bustamante-Aragones, Ana;
    • Rodilla, Cristina;
    • Rodríguez-Pinilla, Elvira;
    • Riveiro-Alvarez, Rosa;
    • Tahsin-Swafiri, Saoud;
    • Trujillo-Tiebas, Maria Jose;
    • Ayuso, Carmen;
    • Rodríguez de Alba, Marta;
    • Lorda-Sanchez, Isabel;
    • Almoguera, Berta
    Publication type:
    Article
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    Unmapped exome reads implicate a role for Anelloviridae in childhood HIV-1 long-term non-progression.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00185-w
    By:
    • Mwesigwa, Savannah;
    • Williams, Lesedi;
    • Retshabile, Gaone;
    • Katagirya, Eric;
    • Mboowa, Gerald;
    • Mlotshwa, Busisiwe;
    • Kyobe, Samuel;
    • Kateete, David P.;
    • Wampande, Eddie Mujjwiga;
    • Wayengera, Misaki;
    • Mpoloka, Sununguko Wata;
    • Mirembe, Angella N.;
    • Kasvosve, Ishmael;
    • Morapedi, Koketso;
    • Kisitu, Grace P.;
    • Kekitiinwa, Adeodata R.;
    • Anabwani, Gabriel;
    • Joloba, Moses L.;
    • Matovu, Enock;
    • Mulindwa, Julius
    Publication type:
    Article
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    Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00184-x
    By:
    • Tanudisastro, Hope A.;
    • Holman, Katherine;
    • Ho, Gladys;
    • Farnsworth, Elizabeth;
    • Fisk, Katrina;
    • Gayagay, Thet;
    • Hackett, Emma;
    • Jenkins, Gemma;
    • Krishnaraj, Rahul;
    • Lai, Tiffany;
    • Wong, Karen;
    • Patel, Chirag;
    • Mallawaarachchi, Amali;
    • Mallett, Andrew J.;
    • Bennetts, Bruce;
    • Alexander, Stephen I.;
    • McCarthy, Hugh J.
    Publication type:
    Article
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