Robevska, G. (Gorjana)
48  Ergebnisse:
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11

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates b..:

van den Bergen, Jocelyn A ; Robevska, Gorjana ; Eggers, Stefanie...
van den Bergen , J A , Robevska , G , Eggers , S , Riedl , S , Grover , S R , Bergman , P B , Kimber , C , Jiwane , A , Khan , S , Krausz , C , Raza , J , Atta , I , Davis , S R , Ono , M , Harley , V , Faradz , S M H , Sinclair , A H & Ayers , K L 2020 , ' Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development ' , Molecular Genetics and Genomic Medicine , vol. 8 , no. 3 , e1095 . https://doi.org/10.1002/mgg3.1095.  , 2020
 
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12

Functional characterization of two new variants in the bone..:

Bouty, Aurore ; Walton, Kelly ; Listyasari, Nurin Aisyiyah...
Bouty , A , Walton , K , Listyasari , N A , Robevska , G , Van Den Bergen , J , Santosa , A , Faradz , S M H , Harrison , C , Ayers , K L & Sinclair , A H 2019 , ' Functional characterization of two new variants in the bone morphogenetic protein 7 prodomain in two pairs of monozygotic twins with hypospadias ' , Journal of the Endocrine Society , vol. 3 , no. 4 , pp. 814-824 . https://doi.org/10.1210/js.2018-00333.  , 2019
 
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13

Human sex reversal is caused by duplication or deletion of ..:

Croft, Brittany Marie ; Ohnesorg, Thomas ; Hewitt, Jacqueline...
Croft , B M , Ohnesorg , T , Hewitt , J , Bowles , J , Quinn , A , Tan , J , Corbin , V D A , Pelosi , E , Van Den Bergen , J , Sreenivasan , R , Knarston , I M , Robevska , G , Vu , D C , Hutson , J , Harley , V , Ayers , K , Koopman , P & Sinclair , A 2018 , ' Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 ' , Nature Communications , vol. 9 , no. 1 , 5319 . https://doi.org/10.1038/s41467-018-07784-9.  , 2018
 
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14

Disorders of sex development:Insights from targeted gene se..:

Eggers, Stefanie ; Sadedin, Simon ; van den Bergen, Jocelyn A...
Eggers , S , Sadedin , S , van den Bergen , J A , Robevska , G , Ohnesorg , T , Hewitt , J , Lambeth , L , Bouty , A , Knarston , I M , Tan , T Y , Cameron , F , Werther , G , Hutson , J , O'Connell , M , Grover , S R , Heloury , Y , Zacharin , M , Bergman , P , Kimber , C , Brown , J , Webb , N , Hunter , M F , Lafferty , A R , Harley , V , Koopman , P , Ayers , K L & Sinclair , A H 2016 , ' Disorders of sex development : Insights from targeted gene sequencing of a large international patient cohort ' , Genome Biology , vol. 17 , no. 1 , 243 . https://doi.org/10.1186/s13059-016-1105-y.  , 2016
 
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