Sims, G D
1790  Ergebnisse:
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1

Detailed analysis of ITPR1 missense variants guides diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
Tolonen , J P , Parolin Schnekenberg , R , McGowan , S , Sims , D , McEntagart , M , Elmslie , F , Shears , D , Stewart , H , Tofaris , G K , Dabir , T , Morrison , P J , Johnson , D , Hadjivassiliou , M , Ellard , S , Shaw‐Smith , C , Znaczko , A , Dixit , A , Suri , M , Sarkar , A , Harrison , R E , Jones , G , Houlden , H , Ceravolo , G , Jarvis , J , Williams , J , Shanks , M E , Clouston , P , Rankin , J , Blumkin , L , Lerman‐Sagie , T , Ponger , P , Raskin , S , Granath , K , Uusimaa , J , Conti , H , McCann , E , Joss , S , Blakes , A J M , Metcalfe , K , Kingston , H , Bertoli , M , Kneen , R , Lynch , S A , Martínez Albaladejo , I , Moore , A P , Jones , W D , Becker , E B E , Németh , A H & Genomics England Research Consortium 2023 , ' Detailed analysis of ITPR1 missense variants guides diagnostics and therapeutic design ' , Movement Disorders . https://doi.org/10.1002/mds.29651.  , 2023
 
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A hybrid architecture (CO-CONNECT) to facilitate rapid disc..:

Jefferson, Emily ; Cole, Christian ; Mumtaz, Shahzad...
Jefferson , E , Cole , C , Mumtaz , S , Cox , S , Giles , T C , Adejumo , S , Urwin , E , Lea , D , Macdonald , C , Best , J , Masood , E , Milligan , G , Johnston , J , Horban , S , Birced , I , Hall , C , Jackson , A S , Collins , C , Rising , S , Dodsley , C , Hampton , J , Hadfield , A , Santos , R , Tarr , S , Panagi , V , Lavagna , J , Jackson , T , Chuter , A , Beggs , J , Martinez-Queipo , M , Ward , H , von Ziegenweidt , J , Burns , F , Martin , J , Sebire , N , Morris , C , Bradley , D , Baxter , R , Ahonen-Bishopp , A , Smith , P , Shoemark , A , Valdes , A M , Ollivere , B , Manisty , C , Eyre , D , Gallant , S , Joy , G , McAuley , A , Connell , D , Northstone , K , Jeffery , K , Di Angelantonio , E , McMahon , A , Walker , M , Semple , M G , Sims , J M , Lawrence , E , Davies , B , Baillie , J K , Tang , M , Leeming , G , Power , L , Breeze , T , Murray , D , Orton , C , Pierce , I , Hall , I , Ladhani , S , Gillson , N , Whitaker , M , Shallcross , L , Seymo....  , 2022
 
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3

Common variants in Alzheimer's disease and risk stratificat..:

de Rojas I ; Moreno-Grau S ; Tesi N...
info:eu-repo/semantics/altIdentifier/pmid/34099642.  , 2021
 
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4

Towards complete and error-free genome assemblies of all ve..:

Rhie, Arang ; McCarthy, Shane A ; Fedrigo, Olivier...
Rhie , A , McCarthy , S A , Fedrigo , O , Damas , J , Formenti , G , Koren , S , Uliano-Silva , M , Chow , W , Fungtammasan , A , Kim , J , Lee , C , Ko , B J , Chaisson , M , Gedman , G L , Cantin , L J , Thibaud-Nissen , F , Haggerty , L , Bista , I , Smith , M , Haase , B , Mountcastle , J , Winkler , S , Paez , S , Howard , J , Vernes , S C , Lama , T M , Grutzner , F , Warren , W C , Balakrishnan , C N , Burt , D , George , J M , Biegler , M T , Iorns , D , Digby , A , Eason , D , Robertson , B , Edwards , T , Wilkinson , M , Turner , G , Meyer , A , Kautt , A F , Franchini , P , Detrich , H W , Svardal , H , Wagner , M , Naylor , G J P , Pippel , M , Malinsky , M , Mooney , M , Simbirsky , M , Hannigan , B T , Pesout , T , Houck , M , Misuraca , A , Kingan , S B , Hall , R , Kronenberg , Z , Sović , I , Dunn , C , Ning , Z , Hastie , A , Lee , J , Selvaraj , S , Green , R E , Putnam , N H , Gut , I , Ghurye , J , Garrison , E , Sims , Y , Collins , J , Pelan , S....  , 2021
 
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Common variants in Alzheimer's disease and risk stratificat..:

de Rojas I ; Moreno-Grau S ; Tesi N...
info:eu-repo/semantics/altIdentifier/pmid/34099642.  , 2021
 
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7

Common variants in Alzheimer's disease and risk stratificat..:

de Rojas I ; Moreno-Grau S ; Tesi N...
info:eu-repo/semantics/altIdentifier/pmid/34099642.  , 2021
 
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8

Common variants in Alzheimer's disease and risk stratificat..:

de Rojas, I ; Moreno-Grau, S ; Tesi, N...
https://discovery.ucl.ac.uk/id/eprint/10129411/1/s41467-021-22491-8.pdf.  , 2021
 
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Exome sequencing identifies rare damaging variants in the A..:

Holstege, Henne ; Hulsman, Marc ; Charbonnier, Camille...
Holstege , H , Hulsman , M , Charbonnier , C , Grenier-Boley , B , Quenez , O , Grozeva , D , van Rooij , J G J , Sims , R , Ahmad , S , Amin , N , Norsworthy , P , Dols-Icardo , O , Hummerich , H , Kawalia , A , Amouyel , P , Beecham , G W , Berr , C , Bis , J C , Boland , A , Bossù , P , Bouwman , F H , Bras , J , Campion , D , Cochran , J N , Daniele , A , Dartigues , J F , Debette , S , Deleuze , J F , Denning , N , Destefano , A L , Farrer , L A , Fernandez , V , Fox , N C , Galimberti , D , Génin , E , Gille , H , Guen , Y L , Guerreiro , R , Haines , J L , Holmes , C , Ikram , M A , Ikram , M K , Jansen , I E , Kraaij , R , Lathrop , M , Lemstra , A W , Lleó , A , Luckcuck , L , Marshall , R , Martin , E R , Masullo , C , Mayeux , R , Mecocci , P , Meggy , A , Mol , M O , Morgan , K , Myers , R M , Nacmias , B , Naj , A C , Napolioni , V , Pastor , P , Pericak-Vance , M A , Raybould , R , Redon , R , Reinders , M J , Richard , A C , Riedel-Heller , S ....  , 2021
 
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10

ZMYND11 variants are a novel cause of centrotemporal and ge..:

Oates, Stephanie ; Absoud, Michael ; Goyal, Sushma...
Oates , S , Absoud , M , Goyal , S , Bayley , S , Baulcomb , J , Sims , A , Riddett , A , Allis , K , Brasch-Andersen , C , Balasubramanian , M , Bai , R , Callewaert , B , Hüffmeier , U , Le Duc , D , Radtke , M , Korff , C , Kennedy , J , Low , K , Møller , R S , Nielsen , J E K , Popp , B , Quteineh , L , Rønde , G , Schönewolf-Greulich , B , Shillington , A , Taylor , M R G , Todd , E , Torring , P M , DMSc , Z T M D P D , Vasileiou , G , Yates , T M , Zweier , C , Rosch , R , Basson , M A & Pal , D K 2021 , ' ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder ' , Clinical Genetics , vol. 100 , no. 4 , pp. 412-429 . https://doi.org/10.1111/cge.14023.  , 2021
 
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11

Common variants in Alzheimer's disease and risk stratificat..:

de Rojas, I ; Moreno-Grau, S ; Tesi, N...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-021-22491-8.  , 2021
 
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12

In-plane permeability characterization of engineering texti..:

May, D ; Aktas, A ; Advani, S.G...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.compositesa.2019.03.006.  , 2019
 
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13

Animal-borne telemetry:an integral component of the ocean o..:

Harcourt, Rob ; Sequeira, Ana M.M ; Zhang, Xuelei...
Harcourt , R , Sequeira , A M M , Zhang , X , Roquet , F , Komatsu , K , Heupel , M , McMahon , C , Whoriskey , F , Meekan , M , Carroll , G , Brodie , S , Simpfendorfer , C , Hindell , M , Jonsen , I , Costa , D P , Block , B , Muelbert , M , Woodward , B , Weise , M , Aarestrup , K , Biuw , M , Boehme , L , Bograd , S J , Cazau , D , Charrassin , J B , Cooke , S J , Cowley , P , de Bruyn , P J N , Jeanniard du Dot , T , Duarte , C , Eguíluz , V M , Ferreira , L C , Fernández-Gracia , J , Goetz , K , Goto , Y , Guinet , C , Hammill , M , Hays , G C , Hazen , E L , Hückstädt , L A , Huveneers , C , Iverson , S , Jaaman , S A , Kittiwattanawong , K , Kovacs , K M , Lydersen , C , Moltmann , T , Naruoka , M , Phillips , L , Picard , B , Queiroz , N , Reverdin , G , Sato , K , Sims , D W , Thorstad , E B , Thums , M , Treasure , A M , Trites , A W , Williams , G D , Yonehara , Y & Fedak , M A 2019 , ' Animal-borne telemetry : an integral component of t....  , 2019
 
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Gene-based analysis in HRC imputed genome wide association ..:

Baker, Emily ; Sims, Rebecca ; Leonenko, Ganna...
Baker , E , Sims , R , Leonenko , G , Frizzati , A , Harwood , J C , Grozeva , D , Morgan , K , Passmore , P , Holmes , C , Powell , J , Brayne , C , Gill , M , Mead , S , Bossù , P , Spalletta , G , Goate , A M , Cruchaga , C , Maier , W , Heun , R , Jessen , F , Peters , O , Dichgans , M , FröLich , L , Ramirez , A , Jones , L , Hardy , J , Ivanov , D , Hill , M , Holmans , P , Allen , N D , Morgan , B P , Seshadri , S , Schellenberg , G D , Amouyel , P , Williams , J & Escott-Price , V 2019 , ' Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease ' , PLoS ONE , vol. 14 , no. 7 , e0218111 . https://doi.org/10.1371/journal.pone.0218111.  , 2019
 
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15

In-plane permeability characterization of engineering texti..:

May, D ; Aktas, A ; Advani, S.G...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.compositesa.2019.03.006.  , 2019
 
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