E-LIB Suche - Ergebnisse für: Robevska, G. (Gorjana)

1

Generation of heterozygous (MCRIi031-A-1) and homozygous (M..:

Pachernegg, Svenja ; Robevska, Gorjana ; G. A. Ferreira, Lucas...
Stem Cell Research. 79 (2024) - p. 103484 , 2024

Link: https://doi.org/10.1016/..

2

COUP-TFII regulates early bipotential gonad signaling and c..:

Ferreira, Lucas G. A. ; Kizys, Marina M. L. ; Gama, Gabriel A. C....
Cell & Bioscience. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

Generation of heterozygous (MCRIi030-A-1) and homozygous (M..:

Ferreira, Lucas G.A. ; Cabral-da-Silva, Mauricio C. ; Pachernegg, Svenja...
Stem Cell Research. 76 (2024) - p. 103374 , 2024

Link: https://doi.org/10.1016/..

4

Generation of a homozygous (MCRIi031-A-3) WT1 knockout huma..:

Pachernegg, Svenja ; Robevska, Gorjana ; Ferreira, Lucas G.A....
Stem Cell Research. 79 (2024) - p. 103494 , 2024

Link: https://doi.org/10.1016/..

5

Deficiency of the mitochondrial ribosomal subunit, MRPL50, ..:

Bakhshalizadeh, Shabnam ; Hock, Daniella H. ; Siddall, Nicole A....
Human Genetics. 142 (2023) 7 - p. 879-907 , 2023

Link: https://doi.org/10.1007/..

6

A Human Homozygous HELQ Missense Variant Does Not Cause Pre..:

Bakhshalizadeh, Shabnam ; Bird, Anthony D. ; Sreenivasan, Rajini...
Genes. 15 (2024) 3 - p. 333 , 2024

Link: https://doi.org/10.3390/..

7

Diverse genetic causes of amenorrhea in an ethnically homog..:

Bakhshalizadeh, Shabnam ; Afkhami, Fateme ; Bell, Katrina M....
Molecular and Cellular Endocrinology. 587 (2024) - p. 112212 , 2024

Link: https://doi.org/10.1016/..

8

Biallelic FANCA variants detected in sisters with isolated ..:

Tucker, Elena J. ; Sharp, Michael F. ; Lokchine, Anna...
Clinical Genetics. , 2024

Link: https://doi.org/10.1111/..

9

Variants in SART3 cause a spliceosomopathy characterised by..:

Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N....
Nature Communications. 14 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

10

Author Correction: Variants in SART3 cause a spliceosomopat..:

Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N....
Nature Communications. 14 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

11

Clinical lesson learned from genetic analysis in patients p..:

Listyasari, Nurin A. ; Robevska, Gorjana ; Ayers, Katie L....
Asian Journal of Urology. 9 (2022) 2 - p. 186-189 , 2022

Link: https://doi.org/10.1016/..

12

Whole exome sequencing reveals copy number variants in indi..:

Sreenivasan, Rajini ; Bell, Katrina ; van den Bergen, Jocelyn...
Molecular and Cellular Endocrinology. 546 (2022) - p. 111570 , 2022

Link: https://doi.org/10.1016/..

13

Premature Ovarian Insufficiency in CLPB Deficiency: Transcr..:

Tucker, Elena J ; Baker, Megan J ; Hock, Daniella H...
The Journal of Clinical Endocrinology & Metabolism. 107 (2022) 12 - p. 3328-3340 , 2022

Link: https://doi.org/10.1210/..

14

Dominant TP63 missense variants lead to constitutive activa..:

Tucker, Elena J. ; Gutfreund, Niklas ; Belaud‐Rotureau, Marc‐Antoine...
Human Mutation. 43 (2022) 10 - p. 1443-1453 , 2022

Link: https://doi.org/10.1002/..

15

Functional genomics analysis identifies loss ofHNF1Bfunctio..:

Thomson, Ella ; Tran, Minh ; Robevska, Gorjana...
Human Molecular Genetics. 32 (2022) 6 - p. 1032-1047 , 2022

Link: https://doi.org/10.1093/..