المؤلفون: Ana Paula Francese-Santos, Jakob A. Meinel, Cristiane S. C. Piveta, Juliana G. R. Andrade, Beatriz A. Barros, Helena Fabbri-Scallet, Vera Lúcia Gil-da-Silva-Lopes, Gil Guerra-Junior, Axel Künstner, Hauke Busch, Olaf Hiort, Maricilda P. de Mello, Ralf Werner, Andréa T. Maciel-Guerra

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 1; Pages: 494

مصطلحات موضوعية: disorders of sex development, 46,XY partial gonadal dysgenesis, Xp21.2 duplication, NR0B1, chromosome microarray analysis, whole-genome sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms24010494

الاتاحة: https://doi.org/10.3390/ijms24010494

المؤلفون: Jakob A Meinel, Verónica Yumiceba, Axel Künstner, Kristin Schultz, Nathalie Kruse, Frank J Kaiser, Paul-Martin Holterhus, Alexander Claviez, Olaf Hiort, Hauke Busch, Malte Spielmann, Ralf Werner

مصطلحات موضوعية: Genetics, Medizin, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a3313a7faf9d58204f07dab7dff3e93
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85139221427

المؤلفون: Jakob A. Meinel, Olaf Hiort, Ana Paula Santos, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra, Frank J. Kaiser, Maricilda Palandi de Mello, Vera Lúcia Gil-da-Silva-Lopes, Axel Künstner, Cristiane dos Santos Cruz Piveta, Ralf Werner, Helena Fabbri-Scallet, Hauke Busch, Paul-Martin Holterhus, Juliana Gabriel Ribeiro de Andrade

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, CTCF, Gene duplication, medicine, Gonadal dysgenesis, Locus (genetics), Copy-number variation, Biology, medicine.disease, Enhancer, Topology, Gene dosage, XY gonadal dysgenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::090beb4b8cc7e86b49bd4a70fd44ed53