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UK10K
30
results:
Articles (Online) X
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1
A recurrent de novo mutation inACTG1causes isolated ocular ..:
Rainger, Joe
;
Williamson, Kathleen A
;
Soares, Dinesh C
...
Human Mutation. 38 (2017) 8 - p. 942-946 , 2017
Link:
https://doi.org/10.1002/..
?
2
Exome sequencing of Pakistani consanguineous families ident..:
UK10K
;
Riazuddin, S
;
Hussain, M
...
Molecular Psychiatry. 22 (2016) 11 - p. 1604-1614 , 2016
Link:
https://doi.org/10.1038/..
?
3
'Pop-Up' Governance: developing internal governance framewo..:
UK10K
;
Kaye, Jane
;
Muddyman, Dawn
...
Life Sciences, Society and Policy. 11 (2015) 1 - p. , 2015
Link:
https://doi.org/10.1186/..
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4
Targeted NGS gene panel identifies mutations in RSPH1 causi..:
Onoufriadis, Alexandros
;
Shoemark, Amelia
;
Schmidts, Miriam
...
Human Molecular Genetics. 23 (2014) 13 - p. 3362-3374 , 2014
Link:
https://doi.org/10.1093/..
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5
DYX1C1 is required for axonemal dynein assembly and ciliary..:
UK10K
;
Tarkar, Aarti
;
Loges, Niki T
...
Nature Genetics. 45 (2013) 9 - p. 995-1003 , 2013
Link:
https://doi.org/10.1038/..
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6
Steroid receptor coactivator-1 modulates the function of Po..:
Yang, Yongjie
;
van der Klaauw, Agatha A.
;
Zhu, Liangru
...
Nature Communications. 10 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1038/..
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7
GARFIELD classifies disease-relevant genomic features throu..:
UK10K Consortium
;
Iotchkova, Valentina
;
Ritchie, Graham R. S.
...
Nature Genetics. 51 (2019) 2 - p. 343-353 , 2019
Link:
https://doi.org/10.1038/..
?
8
Bi-allelic mutations in MYL1 cause a severe congenital myop..:
Ravenscroft, Gianina
;
Zaharieva, Irina
;
Bortolotti, Carlo A
...
Human Molecular Genetics. , 2018
Link:
https://doi.org/10.1093/..
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9
Author Correction: Discovery and refinement of genetic loci..:
UK10K Consortium
;
Iotchkova, Valentina
;
Huang, Jie
...
Nature Genetics. 50 (2018) 12 - p. 1752-1752 , 2018
Link:
https://doi.org/10.1038/..
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10
The contribution of rare variants to risk of schizophrenia ..:
INTERVAL Study
;
Singh, Tarjinder
;
Walters, James T R
...
Nature Genetics. 49 (2017) 8 - p. 1167-1173 , 2017
Link:
https://doi.org/10.1038/..
?
11
Erratum: Corrigendum: Mutations in the histone methyltransf..:
UK10K Consortium
;
Meyer, Esther
;
Carss, Keren J
...
Nature Genetics. 49 (2017) 6 - p. 969-969 , 2017
Link:
https://doi.org/10.1038/..
?
12
Mutations in the histone methyltransferase gene KMT2B cause..:
UK10K Consortium
;
Meyer, Esther
;
Carss, Keren J
...
Nature Genetics. 49 (2016) 2 - p. 223-237 , 2016
Link:
https://doi.org/10.1038/..
?
13
Discovery and refinement of genetic loci associated with ca..:
UK10K Consortium
;
Iotchkova, Valentina
;
Huang, Jie
...
Nature Genetics. 48 (2016) 11 - p. 1303-1312 , 2016
Link:
https://doi.org/10.1038/..
?
14
A secreted WNT-ligand-binding domain of FZD5 generated by a..:
Liu, Chunqiao
;
Widen, Sonya A.
;
Williamson, Kathleen A.
...
Human Molecular Genetics. 25 (2016) 7 - p. 1382-1391 , 2016
Link:
https://doi.org/10.1093/..
?
15
A method for analyzing multiple continuous phenotypes in ra..:
UK10K Consortium
;
Sun, Jianping
;
Oualkacha, Karim
...
European Journal of Human Genetics. 24 (2016) 9 - p. 1344-1351 , 2016
Link:
https://doi.org/10.1038/..
1-15