Works matching IS 20734425 AND DT 2021 AND VI 12 AND IP 8


Results: 188
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    Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1284, doi. 10.3390/genes12081284
    By:
    • de la Puente, María;
    • Ruiz-Ramírez, Jorge;
    • Ambroa-Conde, Adrián;
    • Xavier, Catarina;
    • Pardo-Seco, Jacobo;
    • Álvarez-Dios, Jose;
    • Freire-Aradas, Ana;
    • Mosquera-Miguel, Ana;
    • Gross, Theresa E.;
    • Cheung, Elaine Y. Y.;
    • Branicki, Wojciech;
    • Nothnagel, Michael;
    • Parson, Walther;
    • Schneider, Peter M.;
    • Kayser, Manfred;
    • Carracedo, Ángel;
    • Lareu, Maria Victoria;
    • Phillips, Christopher
    Publication type:
    Article
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    Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1277, doi. 10.3390/genes12081277
    By:
    • Van Heurck, Roxane;
    • Carminho-Rodrigues, Maria Teresa;
    • Ranza, Emmanuelle;
    • Stafuzza, Caterina;
    • Quteineh, Lina;
    • Gehrig, Corinne;
    • Hammar, Eva;
    • Guipponi, Michel;
    • Abramowicz, Marc;
    • Senn, Pascal;
    • Guinand, Nils;
    • Cao-Van, Helene;
    • Paoloni-Giacobino, Ariane
    Publication type:
    Article
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    A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
    By:
    • van der Sluijs, Pleuntje J.;
    • Alders, Mariëlle;
    • Dingemans, Alexander J. M.;
    • Parbhoo, Kareesma;
    • van Bon, Bregje W.;
    • Dempsey, Jennifer C.;
    • Doherty, Dan;
    • den Dunnen, Johan T.;
    • Gerkes, Erica H.;
    • Milller, Ilana M.;
    • Moortgat, Stephanie;
    • Regier, Debra S.;
    • Ruivenkamp, Claudia A. L.;
    • Schmalz, Betsy;
    • Smol, Thomas;
    • Stuurman, Kyra E.;
    • Vincent-Delorme, Catherine;
    • de Vries, Bert B. A.;
    • Sadikovic, Bekim;
    • Hickey, Scott E.
    Publication type:
    Article
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    Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1257, doi. 10.3390/genes12081257
    By:
    • Kutkowska-Kaźmierczak, Anna;
    • Boczar, Maria;
    • Kalka, Ewa;
    • Castañeda, Jennifer;
    • Klapecki, Jakub;
    • Pietrzyk, Aleksandra;
    • Barczyk, Artur;
    • Malinowska, Olga;
    • Landowska, Aleksandra;
    • Gambin, Tomasz;
    • Kowalczyk, Katarzyna;
    • Wiśniowiecka-Kowalnik, Barbara;
    • Smyk, Marta;
    • Dawidziuk, Mateusz;
    • Niepokój, Katarzyna;
    • Paczkowska, Magdalena;
    • Szyld, Paweł;
    • Lipska-Ziętkiewicz, Beata;
    • Szczałuba, Krzysztof;
    • Kostyk, Ewa
    Publication type:
    Article
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    Systematic Identification of circRNAs in Alzheimer's Disease.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1258, doi. 10.3390/genes12081258
    By:
    • Cochran, Kyle R.;
    • Veeraraghavan, Kirtana;
    • Kundu, Gautam;
    • Mazan-Mamczarz, Krystyna;
    • Coletta, Christopher;
    • Thambisetty, Madhav;
    • Gorospe, Myriam;
    • De, Supriyo
    Publication type:
    Article
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    Proof of Gene Doping in a Mouse Model with a Human Erythropoietin Gene Transferred Using an Adenoviral Vector.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1249, doi. 10.3390/genes12081249
    By:
    • Sugasawa, Takehito;
    • Nakano, Takuro;
    • Fujita, Shin-ichiro;
    • Matsumoto, Yuki;
    • Ishihara, Genki;
    • Aoki, Kai;
    • Yanazawa, Koki;
    • Ono, Seiko;
    • Tamai, Shinsuke;
    • Manevich, Lev;
    • Ueda, Haruna;
    • Ishibashi, Noriyo;
    • Tamai, Kenshirou;
    • Kanki, Yasuharu;
    • Yoshida, Yasuko;
    • Watanabe, Koichi;
    • Takemasa, Tohru;
    • Kawakami, Yasushi;
    • Takekoshi, Kazuhiro
    Publication type:
    Article
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