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X
Smith, KR
519  Ergebnisse:
Personensuche X
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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..
 
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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..
 
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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/..
 
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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..
 
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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..
 
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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/..
 
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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/..
 
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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..
 
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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..
 
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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..
 
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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..
 
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