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Clinical delineation, sex differences, and genotype–phenoty..:
Faúndes Gómez, Víctor Manuel
;
Goh, Stephanie
;
Akilapa, Rhoda
...
Genetics in Medicine (2021) 23:1202–1210. , 2021
Link:
https://doi.org/10.1038/s41436-021-01119-8
RT Journal T1
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
UL https://suche.suub.uni-bremen.de/peid=base-ftunivchile:oai:repositorio.uchile.cl:2250_184292&Exemplar=1&LAN=DE A1 Faúndes Gómez, Víctor Manuel A1 Goh, Stephanie A1 Akilapa, Rhoda A1 Bezuidenhout, Heidre A1 Bjornsson, Hans T A1 Bradley, Lisa A1 Brady, Angela F A1 Brischoux Boucher, Elise A1 Brunner, Han A1 Bulk, Saskia A1 Canham, Natalie A1 Cody, Declan A1 Dentici, María Lisa A1 Digilio, María Cristina A1 Elmslie, Frances A1 Fry, Andrew E A1 Gill, Harinder A1 Hurst, Jane A1 Johnson, Diana A1 Julia, Sophie A1 Lachlan, Katherine A1 Lebel, Robert Roger A1 Byler, Melissa A1 Gershon, Eric A1 Lemire, Edmond A1 Gnazzo, María A1 Lepri, Francesca Romana A1 Marchese, Antonia A1 McEntagart, Meriel A1 McGaughran, Julie A1 Mizuno, Seiji A1 Okamoto, Nobuhiko A1 Rieubland, Claudine A1 Rodgers, Jonathan A1 Sasaki, Erina A1 Scalais, Emmanuel A1 Scurr, Ingrid A1 Suri, Mohnish A1 van der Burgt, Ineke A1 Matsumoto, Naomichi A1 Miyake, Noriko A1 Benoit, Valérie A1 Lederer, Damien A1 Banka, Siddharth PB Nature YR 2021 JF Genetics in Medicine (2021) 23:1202–1210 LK http://dx.doi.org/https://doi.org/10.1038/s41436-021-01119-8 DO https://doi.org/10.1038/s41436-021-01119-8 SF ELIB - SuUB Bremen
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