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Smith, KR
519
results:
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Online (519)
Mediatypes
Articles (Online) (14)
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1
An energy vision: the transformation towards sustainability..:
van Vuuren, DP
;
Nakicenovic, N
;
Riahi, K
...
Current Opinion in Environmental Sustainability. 4 (2012) 1 - p. 18-34 , 2012
Link:
https://doi.org/10.1016/..
?
2
Intramedullary interlocking nail stabilisation of 21 humera..:
MOSES, PA
;
LEWIS, DD
;
LANZ, OI
...
Australian Veterinary Journal. 80 (2002) 6 - p. 336-343 , 2002
Link:
https://doi.org/10.1111/..
?
3
Genotyping, sequencing and analysis of 140,000 adults from ..:
Ziyatdinov, A
;
Torres, J
;
Alegre-Díaz, J
...
doi:10.1038/s41586-023-06595-3. , 2023
Link:
https://doi.org/10.1038/..
?
4
Human genetics uncovers MAP3K15 as an obesity-independent t..:
Nag, A
;
Dhindsa, RS
;
Mitchell, J
...
doi:10.1126/sciadv.add5430. , 2023
Link:
https://doi.org/10.1126/..
?
5
Assessing the digenic model in rare disorders using populat..:
Moreno-Ruiz, N
;
Ambrose, JC
;
Arumugam, P
...
https://discovery.ucl.ac.uk/id/eprint/10158400/1/Ryten_Assessing%20the%20digenic%20model%20in%20rare%20disorders%20using%20population%20sequencing%20data_AOP.pdf. , 2022
Link:
https://discovery.ucl.ac..
?
6
Identification of 4 novel human ocular coloboma genes ANK3,..:
Owen, N
;
Toms, M
;
Young, RM
...
https://discovery.ucl.ac.uk/id/eprint/10142114/1/Owen_Identification%20of%204%20novel%20human%20ocular%20coloboma%20genes%20ANK3,%20BMPR1B,%20PDGFRA,%20and%20CDH4%20through%20evolutionary%20conserved%20vertebrate%20gene%20analysis_AOP.pdf. , 2022
Link:
https://discovery.ucl.ac..
?
7
The 100,000 genomes pilot on rare disease diagnosis in heal..:
Smedley, D
;
Smith, KR
;
Rueda Martin, A
...
doi:10.1056/NEJMoa2035790. , 2022
Link:
https://doi.org/10.1056/..
?
8
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health C..:
100, 000 Genomes Project Pilot Investigators
;
Smedley, D
;
Smith, KR
...
https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdf. , 2021
Link:
https://discovery.ucl.ac..
?
9
Rare variant contribution to human disease in 281,104 UK Bi..:
Wang, Q
;
Dhindsa, RS
;
Carss, K
...
issn:0028-0836. , 2021
Link:
http://hdl.handle.net/11..
?
10
An ancestral 10-bp repeat expansion in VWA1 causes recessiv..:
Pagnamenta, AT
;
Kaiyrzhanov, R
;
Zou, Y
...
Brain. , 2021
Link:
https://qmro.qmul.ac.uk/..
?
11
Human and mouse essentiality screens as a resource for dise..:
Cacheiro, P
;
Munoz-Fuentes, V
;
Murray, SA
...
NATURE COMMUNICATIONS. , 2020
Link:
https://qmro.qmul.ac.uk/..
?
12
Genomic loci susceptible to systematic sequencing bias in c..:
Freeman, TM
;
Wang, D
;
Harris, J
...
https://discovery.ucl.ac.uk/id/eprint/10094957/1/Genome%20Res.-2020-Freeman-415-26.pdf. , 2020
Link:
https://discovery.ucl.ac..
?
13
Heterozygous lamin B1 and lamin B2 variants cause primary m..:
Parry, DA
;
Martin, CA
;
Greene, P
...
https://discovery.ucl.ac.uk/id/eprint/10113404/1/s41436-020-00980-3.pdf. , 2020
Link:
https://discovery.ucl.ac..
?
14
Germline selection shapes human mitochondrial DNA diversity:
Wei, W
;
Tuna, S
;
Keogh, MJ
...
https://discovery.ucl.ac.uk/id/eprint/10075015/1/aau6520_ArticleContent_v3-1_R2_FINAL.figure%5B2%5D.pdf. , 2019
Link:
https://discovery.ucl.ac..
?
15
Splice-altering variant in COL11A1 as a cause of nonsyndrom..:
Booth, KT
;
Askew, JW
;
Talebizadeh, Z
...
issn:1098-3600. , 2019
Link:
http://hdl.handle.net/11..
1-15