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Ayers, Katie L.
158
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Online (158)
Mediatypes
Articles (Online) (68)
Bookchapter (Online) (2)
OpenAccess-fulltext (88)
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1
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/..
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2
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/..
?
3
Pharmacogenomic studies of fertility outcomes in pediatric ..:
Stenta, Tayla
;
Assis, Michael
;
Ayers, Katie
...
Clinical and Translational Science. 17 (2024) 6 - p. , 2024
Link:
https://doi.org/10.1111/..
?
4
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/..
?
5
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/..
?
6
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/..
?
7
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/..
?
8
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/..
?
9
Genomic technologies and the diagnosis of 46, XY difference..:
Idris, Firman
;
Sinclair, Andrew H.
;
Ayers, Katie L.
Andrology. , 2024
Link:
https://doi.org/10.1111/..
?
10
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/..
?
11
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/..
?
12
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/..
?
13
Lessons Learned from 17 Years of Multidisciplinary Care for..:
Faradz, Sultana M.H.
;
Listyasari, Nurin
;
Utari, Agustini
...
Sexual Development. 17 (2023) 4-6 - p. 170-180 , 2023
Link:
https://doi.org/10.1159/..
?
14
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/..
?
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/..
1-15