Titre:
  • Toward clinical exomes in diagnostics and management of male infertility
Auteur:Lillepea, Kristiina; Juchnewitsch, Anna Grete; Kasak, Laura; Valkna, Anu; Dutta, Avirup; Pomm, Kristjan; Poolamets, Olev; Nagirnaja, Liina; Tamp, Erik; Mahyari, Eisa; Vihljajev, Vladimir; Tjagur, Stanislav; Papadimitriou, Sofia; Riera-Escamilla, Antoni; Versbraegen, Nassim; Farnetani, Ginevra; Castillo-Madeen, Helen; Sütt, Mailis; Kübarsepp, Viljo; Tennisberg, Sven; Korrovits, Paul; Krausz, Csilla; Aston, Kenneth Ivan; Lenaerts, Tom; Conrad, Donald D.F.; Punab, Margus; Laan, Maris
Informations sur la publication:American journal of human genetics, 111, 5, page (877-895)
Statut de publication:Publié, 2024-05-01
Sujet CREF:Biologie
Génétique clinique
Mots-clés:monogenic infertility, azoospermia, oligozoospermia, cryptorchidism, exome sequencing, gene panel, molecular diagnostics, diagnostic yield, oligogenic, infertility management
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0002-9297
info:doi/10.1016/j.ajhg.2024.03.013
info:pii/S0002929724000867
info:scp/85191170725
info:pmid/38614076