Works matching IS 24721727 AND DT 2024 AND VI 116 AND IP 7

Results: 12
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    Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

    Published in:
    Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2384
    By:
    • Blue, Elizabeth E.;
    • Moore, Kristin J.;
    • North, Kari E.;
    • Desrosiers, Tania A.;
    • Carmichael, Suzan L.;
    • White, Janson J.;
    • Chong, Jessica X.;
    • Bamshad, Michael J.;
    • Jenkins, Mary M.;
    • Almli, Lynn M.;
    • Brody, Lawrence C.;
    • Freedman, Sharon F.;
    • Reefhuis, Jennita;
    • Romitti, Paul A.;
    • Shaw, Gary M.;
    • Werler, Martha;
    • Kay, Denise M.;
    • Browne, Marilyn L.;
    • Feldkamp, Marcia L.;
    • Finnell, Richard H.
    Publication type:
    Article
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    Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.

    Published in:
    Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2380
    By:
    • Pannier, Emmanuelle;
    • Sekri, Abel;
    • Roux, Nathalie;
    • Vasiljevic, Alexandre;
    • El Khattabi, Laïla;
    • Chatron, Nicolas;
    • Grotto, Sarah;
    • Menzella, Delphine;
    • Grangé, Gilles;
    • Thébault, Florent;
    • Massardier, Jérôme;
    • Fourrage, Cécile;
    • Lohmann, Laurence;
    • Tsatsaris, Vassilis;
    • Putoux, Audrey;
    • Boutaud, Lucile;
    • Attié‐Bitach, Tania
    Publication type:
    Article
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    Issue Information.

    Published in:
    Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2197
    Publication type:
    Article