E-LIB Suche - Ergebnisse für: Quesne Stabej, Polona Le

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...