tallózása szerző szerint "Bertalan, Rita"

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Az átmeneti külső genitáliákkal született gyermekek kivizsgálásakor alkalmazott modern genetikai technikák

Bertalan, Rita (2019)
Evaluation of DSD training schools organized by cost action BM1303 "DSDnet"

Bertalan, Rita; Lucas-Herald, A; Kolesinska, Z; Berra, M; Cools, M; Balsamo, A; Hiort, O (2018)
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Bertalan, Rita; Bencsik, Zsuzsa; Mezei, Piroska; Vajda, Zsolt; Butz, Henriett; Patócs, Attila Balázs (2019)

NR0B1 (nuclear receptor subfamily 0, group B, member 1) is a transcription factor encoded by DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) responsible for the development ...
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

McElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; Bignon-Topalovic, Joelle; Tan, Daisylyn Senna; Houzelstein, Denis; Buonocore, Federica; Warr, Nick; Kay, Raissa G. G.; Peycelon, Matthieu; Siffroi, Jean-Pierre; Mazen, Inas; Achermann, John C.; Shcherbak, Yuliya; Leger, Juliane; Sallai, Ágnes; Carel, Jean-Claude; Martinerie, Laetitia; Le Ru, Romain; Conway, Gerard S.; Mignot, Brigitte; Van Maldergem, Lionel; Bertalan, Rita; Globa, Evgenia; Brauner, Raja; Jauch, Ralf; Nef, Serge; Greenfield, Andy; Bashamboo, Anu (2020)

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