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Minikel, EV
15  Ergebnisse:
Personensuche X
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1

Evaluating drug targets through human loss-of-function gene..:

Minikel, EV ; Karczewski, KJ ; Martin, HC...
Nature.  , 2021
Link: http://hdl.handle.net/10..
 
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2

Author Correction: The mutational constraint spectrum quant..:

Karczewski, KJ ; Francioli, LC ; Tiao, G...
Nature.  , 2021
Link: http://hdl.handle.net/10..
 
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3

The mutational constraint spectrum quantified from variatio..:

Gudmundsson, S ; Karczewski, KJ ; Francioli, LC...
Nature.  , 2020
Link: http://hdl.handle.net/10..
 
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4

Cerebrospinal fluid and plasma biomarkers in individuals at..:

Vallabh, SM ; Minikel, EV ; Williams, VJ...
https://discovery.ucl.ac.uk/id/eprint/10103833/1/Cerebrospinal%20fluid%20and%20plasma%20biomarkers%20in%20individuals%20at%20risk%20for%20genetic%20prion%20disease.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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5

The effect of LRRK2 loss-of-function variants in humans:

Whiffin, N ; Armean, IM ; Kleinman, A...
10044/1/79583.  , 2020
Link: http://hdl.handle.net/10..
 
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6

Cerebrospinal fluid and plasma biomarkers in individuals at..:

Vallabh, SM ; Minikel, EV ; Williams, VJ...
issn:1741-7015.  , 2020
Link: http://hdl.handle.net/11..
 
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7

Evaluating drug targets through human loss-of-function gene..:

Minikel, EV ; Karczewski, KJ ; Martin, HC...
NATURE.  , 2020
Link: https://qmro.qmul.ac.uk/..
 
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8

Evaluating potential drug targets through human loss-of-fun..:

Minikel, EV ; Karczewski, KJ ; Martin, HC...
Nature.  , 2020
Link: http://hdl.handle.net/10..
 
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9

Correction: Insights into the genetic epidemiology of Crohn..:

Rivas, MA ; Avila, BE ; Koskela, J...
https://discovery.ucl.ac.uk/id/eprint/10078676/1/Correction%20Insights%20into%20the%20genetic%20epidemiology%20of%20Crohns%20and%20rare%20diseases%20in%20the%20Ashkenazi%20Jewish%20population.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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10

Prion protein quantification in human cerebrospinal fluid a..:

Vallabh, SM ; Nobuhara, CK ; Llorens, F...
https://discovery.ucl.ac.uk/id/eprint/10072066/3/Vallabh_Prion%20protein%20quantification%20in%20human%20cerebrospinal%20fluid%20as%20a%20tool%20for%20prion%20disease%20drug%20development.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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11

Insights into the genetic epidemiology of Crohn's and rare ..:

Rivas, MA ; Avila, BE ; Koskela, J...
https://discovery.ucl.ac.uk/id/eprint/10050019/1/Insights%20into%20the%20genetic%20epidemiology%20of%20Crohn%27s%20and%20rare%20diseases%20in%20the%20Ashkenazi%20Jewish%20population.pdf.  , 2018
Link: https://discovery.ucl.ac..
 
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12

Insights into the genetic epidemiology of Crohn's and rare ..:

Rivas, MA ; Avila, BE ; Koskela, J...
issn:1553-7390.  , 2018
Link: http://hdl.handle.net/11..
 
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13

Analysis of protein-coding genetic variation in 60,706 huma..:

Lek, M ; Karczewski, KJ ; Minikel, EV...
Nature.  , 2016
Link: http://hdl.handle.net/10..
 
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14

Reassessment of Mendelian gene pathogenicity using 7,855 ca..:

Walsh, R ; Thomson, KL ; Ware, JS...
Genetics in Medicine.  , 2016
Link: http://hdl.handle.net/10..
 
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15

Evaluating drug targets through human loss-of-function gene..:

EV Minikel ; KJ Karczewski ; HC Martin...
2381/12937367.v1.  , 2020
Link: https://figshare.com/art..
 
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