Browsing by Author "Sauter, Kay-Sara"
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Broad phenotypes of disorders/differences of sex development in MAMLD1 patients through oligogenic disease
Flück, Christa E.; Audí Parera, Laura; Fernández Cancio, Mónica; Sauter, Kay-Sara; Martinez de LaPiscina, Idoia; Castaño, Luis; Camats Tarruella, Nuria (Frontiers Media, 2019-08-29) -
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
Martinez de LaPiscina Martin, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats Tarruella, Núria (Public Library of Science, 2023-07-11)