Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 3

Results: 14
    1
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    Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 3, p. 353, doi. 10.1093/hmg/ddac084
    By:
    • Guimier, Anne;
    • Pontual, Loïc de;
    • Braddock, Stephen R;
    • Torti, Erin;
    • Pérez-Jurado, Luis A;
    • Muñoz-Cabello, Patricia;
    • Arumí, Montserrat;
    • Monaghan, Kristin G;
    • Lee, Hane;
    • Wang, Lee-kai;
    • Pluym, Ilina D;
    • Lynch, Sally Ann;
    • Stals, Karen;
    • Ellard, Sian;
    • Muller, Cécile;
    • Houyel, Lucile;
    • Cohen, Laurence;
    • Lyonnet, Stanislas;
    • Bajolle, Fanny;
    • Amiel, Jeanne
    Publication type:
    Article
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    Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 3, p. 489, doi. 10.1093/hmg/ddac214
    By:
    • Wang, Anqi;
    • Xu, Yili;
    • Yu, Yao;
    • Nead, Kevin T;
    • Kim, TaeBeom;
    • Xu, Keren;
    • Dadaev, Tokhir;
    • Saunders, Ed;
    • Sheng, Xin;
    • Wan, Peggy;
    • Pooler, Loreall;
    • Xia, Lucy Y;
    • Chanock, Stephen;
    • Berndt, Sonja I;
    • Gapstur, Susan M;
    • Stevens, Victoria;
    • Albanes, Demetrius;
    • Weinstein, Stephanie J;
    • Gnanapragasam, Vincent;
    • Giles, Graham G
    Publication type:
    Article
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    7

    Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 3, p. 473, doi. 10.1093/hmg/ddac213
    By:
    • Flex, Elisabetta;
    • Albadri, Shahad;
    • Radio, Francesca Clementina;
    • Cecchetti, Serena;
    • Lauri, Antonella;
    • Priolo, Manuela;
    • Kissopoulos, Marta;
    • Carpentieri, Giovanna;
    • Fasano, Giulia;
    • Venditti, Martina;
    • Magliocca, Valentina;
    • Bellacchio, Emanuele;
    • Welch, Carrie L;
    • Colombo, Paolo C;
    • Kochav, Stephanie M;
    • Chang, Richard;
    • Barrick, Rebekah;
    • Trivisano, Marina;
    • Micalizzi, Alessia;
    • Borghi, Rossella
    Publication type:
    Article
    8

    Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 3, p. 431, doi. 10.1093/hmg/ddac211
    By:
    • Nagel-Wolfrum, Kerstin;
    • Fadl, Benjamin R;
    • Becker, Mirjana M;
    • Wunderlich, Kirsten A;
    • Schäfer, Jessica;
    • Sturm, Daniel;
    • Fritze, Jacques;
    • Gür, Burcu;
    • Kaplan, Lew;
    • Andreani, Tommaso;
    • Goldmann, Tobias;
    • Brooks, Matthew;
    • Starostik, Margaret R;
    • Lokhande, Anagha;
    • Apel, Melissa;
    • Fath, Karl R;
    • Stingl, Katarina;
    • Kohl, Susanne;
    • DeAngelis, Margaret M;
    • Schlötzer-Schrehardt, Ursula
    Publication type:
    Article
    9
    10

    Disease correction in mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 3, p. 417, doi. 10.1093/hmg/ddac209
    By:
    • Rouse, Courtney J;
    • Hawkins, Kimberley;
    • Kabbej, Nadia;
    • Dalugdug, Justin;
    • Kunta, Aishwarya;
    • Kim, Mi-Jung;
    • Someya, Shinichi;
    • Herbst, Zachary;
    • Gelb, Michael;
    • Dinelli, Isabella;
    • Butterworth, Elizabeth;
    • Falk, Darin J;
    • Rosenkrantz, Erinn;
    • Elmohd, Hamza;
    • Khaledi, Hamid;
    • Mowafy, Samar;
    • Ashby, Frederick;
    • Heldermon, Coy D
    Publication type:
    Article
    11

    Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 3, p. 386, doi. 10.1093/hmg/ddac200
    By:
    • McGee, Stacey R;
    • Rajamanickam, Shivakumar;
    • Adhikari, Sandeep;
    • Falayi, Oluwatosin C;
    • Wilson, Theresa A;
    • Shayota, Brian J;
    • Coleman, Jessica A Cooley;
    • Skinner, Cindy;
    • Caylor, Raymond C;
    • Stevenson, Roger E;
    • Quaio, Caio Robledo D' Angioli Costa;
    • Wilke, Berenice Cunha;
    • Bain, Jennifer M;
    • Anyane-Yeboa, Kwame;
    • Brown, Kaitlyn;
    • Greally, John M;
    • Bijlsma, Emilia K;
    • Ruivenkamp, Claudia A L;
    • Politi, Keren;
    • Arbogast, Lydia A
    Publication type:
    Article
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