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Quesne Stabej, Polona Le
43
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Online (43)
Mediatypes
Articles (Online) (20)
OpenAccess-fulltext (23)
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1
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:
Martin, Carol-Anne
;
Sarlós, Kata
;
Logan, Clare V.
...
The American Journal of Human Genetics. 111 (2024) 5 - p. 996 , 2024
Link:
https://doi.org/10.1016/..
?
2
Clonal or collision? A tale of two MiNENs:
Choi, Jaimin
;
Robb, Tamsin
;
Fitzgerald, Sandra
...
Pathology. 56 (2024) - p. S51 , 2024
Link:
https://doi.org/10.1016/..
?
3
Biallelic ATP2B1 variants as a likely cause of a novel neur..:
Yap, Patrick
;
Riley, Lisa G.
;
Kakadia, Purvi M.
...
European Journal of Human Genetics. 32 (2023) 1 - p. 125-129 , 2023
Link:
https://doi.org/10.1038/..
?
4
Rare de novo gain-of-function missense variants in DOT1L ar..:
Nil, Zelha
;
Deshwar, Ashish R.
;
Huang, Yan
...
The American Journal of Human Genetics. 110 (2023) 11 - p. 1919-1937 , 2023
Link:
https://doi.org/10.1016/..
?
5
Complex Patterns of Genomic Heterogeneity Identified in 42 ..:
Robb, Tamsin J.
;
Tsai, Peter
;
Fitzgerald, Sandra
...
Cancer Research Communications. 3 (2023) 1 - p. 31-42 , 2023
Link:
https://doi.org/10.1158/..
?
6
Pathogenic variants in RNPC3 are associated with hypopituit..:
Akin, Leyla
;
Rizzoti, Karine
;
Gregory, Louise C.
...
Genetics in Medicine. 24 (2022) 2 - p. 384-397 , 2022
Link:
https://doi.org/10.1016/..
?
7
Pathogenic variants in the human m6A reader YTHDC2 are asso..:
McGlacken-Byrne, Sinéad M.
;
Del Valle, Ignacio
;
Quesne Stabej, Polona Le
...
JCI Insight. 7 (2022) 5 - p. , 2022
Link:
https://doi.org/10.1172/..
?
8
ZSWIM7Is Associated With Human Female Meiosis and Familial ..:
McGlacken-Byrne, Sinéad M
;
Le Quesne Stabej, Polona
;
Del Valle, Ignacio
...
The Journal of Clinical Endocrinology & Metabolism. 107 (2021) 1 - p. e254-e263 , 2021
Link:
https://doi.org/10.1210/..
?
9
Mutations in MAGEL2 and L1CAM Are Associated With Congenita..:
Gregory, Louise C
;
Shah, Pratik
;
Sanner, Juliane R F
...
The Journal of Clinical Endocrinology & Metabolism. 104 (2019) 12 - p. 5737-5750 , 2019
Link:
https://doi.org/10.1210/..
?
10
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:
Martin, Carol-Anne
;
Sarlós, Kata
;
Logan, Clare V.
...
The American Journal of Human Genetics. 103 (2018) 2 - p. 221-231 , 2018
Link:
https://doi.org/10.1016/..
?
11
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:
Martin, Carol-Anne
;
Sarlós, Kata
;
Logan, Clare V.
...
The American Journal of Human Genetics. 103 (2018) 3 - p. 456 , 2018
Link:
https://doi.org/10.1016/..
?
12
An example of the utility of genomic analysis for fast and ..:
Le Quesne Stabej, Polona
;
James, Chela
;
Ocaka, Louise
...
Orphanet Journal of Rare Diseases. 12 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1186/..
?
13
STAG3 truncating variant as the cause of primary ovarian in..:
GOSgene
;
Le Quesne Stabej, Polona
;
Williams, Hywel J
...
European Journal of Human Genetics. 24 (2015) 1 - p. 135-138 , 2015
Link:
https://doi.org/10.1038/..
?
14
Screening for duplications, deletions and a common intronic..:
Steele-Stallard, Heather B
;
Le Quesne Stabej, Polona
;
Lenassi, Eva
...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. , 2013
Link:
https://doi.org/10.1186/..
?
15
Complex Patterns of Genomic Heterogeneity Identified in 42 ..:
Robb, Tamsin J
;
Tsai, Peter
;
Fitzgerald, Sandra
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10035512/. , 2023
Link:
http://www.ncbi.nlm.nih...
1-15