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1 Ergebnisse
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Clinical delineation, sex differences, and genotype–phenoty..:
Faundes, Víctor
;
Goh, Stephanie
;
Akilapa, Rhoda
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01119-8. , 2021
Link:
https://ut3-toulouseinp.hal.science/hal-04312550
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-ftutoulouse3hal:oai:HAL:hal-04312550v1&Exemplar=1&LAN=DE A1 Faundes, Víctor 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, Maria, Lisa A1 Digilio, Maria, 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, Maria 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 HAL CCSD; Nature Publishing Group YR 2021 K1 MESH: Abnormalities K1 Multiple K1 MESH: DNA-Binding Proteins / genetics K1 MESH: Male K1 MESH: Neoplasm Proteins / genetics K1 MESH: Phenotype K1 MESH: Sex Characteristics K1 MESH: Vestibular Diseases K1 MESH: Face / abnormalities K1 MESH: Female K1 MESH: Genetic Association Studies K1 MESH: Hematologic Diseases K1 MESH: Histone Demethylases / genetics K1 MESH: Humans K1 MESH: Infant K1 Newborn K1 MESH: Intellectual Disability* / genetics K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics JF info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01119-8 LK http://dx.doi.org/https://ut3-toulouseinp.hal.science/hal-04312550 DO https://ut3-toulouseinp.hal.science/hal-04312550 SF ELIB - SuUB Bremen
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