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van den Bergen, Jocelyn A.
121
results:
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Online (121)
Mediatypes
Articles (Online) (51)
OpenAccess-fulltext (70)
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1
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/..
?
2
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/..
?
3
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/..
?
4
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/..
?
5
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/..
?
6
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/..
?
7
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/..
?
8
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/..
?
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
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/..
?
11
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/..
?
12
Integral Role of the Mitochondrial Ribosome in Supporting O..:
Kline, Brianna L.
;
Jaillard, Sylvie
;
Bell, Katrina M.
...
Genes. 13 (2022) 11 - p. 2113 , 2022
Link:
https://doi.org/10.3390/..
?
13
FGF9 variant in 46,XY DSD patient suggests a role for dimer..:
Croft, Brittany
;
Bird, Anthony D.
;
Ono, Makoto
...
Clinical Genetics. 103 (2022) 3 - p. 277-287 , 2022
Link:
https://doi.org/10.1111/..
?
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/..
1-15