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EuroEPINOMICS-RES Consortium
33  Ergebnisse:
Personensuche X
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1

Gene family information facilitates variant interpretation ..:

EuroEPINOMICS-RES Consortium ; Lal, Dennis ; May, Patrick...
Genome Medicine.  12 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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2

Application of rare variant transmission disequilibrium tes..:

Epi4K Consortium ; EuroEPINOMICS-RES Consortium ; Epilepsy Phenome Genome Project
European Journal of Human Genetics.  25 (2017)  7 - p. 894-899 , 2017
Link: https://doi.org/10.1038/..
 
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3

Phenotypic and genetic spectrum of epilepsy with myoclonic ..:

EuroEPINOMICS-RES Consortium ; Tang, Shan ; Addis, Laura...
10.1111/epi.16508.  , 2021
Link: http://hdl.handle.net/10..
 
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4

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Medi..:

EuroEPINOMICS-RES Consortium ; GRIN Consortium ; Helbig, Ingo...
10.1016/j.ajhg.2019.04.001.  , 2021
Link: http://hdl.handle.net/10..
 
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5

Gene family information facilitates variant interpretation ..:

Lal, D ; May, P ; Perez-Palma, E...
Genome Medicine: medicine in the post-genomic era.  , 2020
Link: http://hdl.handle.net/10..
 
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6

Gene family information facilitates variant interpretation ..:

EuroEPINOMICS-RES Consortium ; Lal, Dennis ; May, Patrick...
10.1186/s13073-020-00725-6.  , 2020
Link: http://hdl.handle.net/10..
 
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7

Gene family information facilitates variant interpretation ..:

Dennis Lal ; Patrick May ; Eduardo Perez-Palma...
http://link.springer.com/article/10.1186/s13073-020-00725-6.  , 2020
Link: https://doi.org/10.1186/..
 
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8

De novo variants in neurodevelopmental disorders with epile..:

EuroEPINOMICS-RES Consortium ; Heyne, Henrike O ; Linnankivi, Tarja...
10.1038/s41588-018-0143-7.  , 2019
Link: http://hdl.handle.net/10..
 
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9

Diagnostic implications of genetic copy number variation in..:

EuroEPINOMICS-RES Consortium ; EpiCNV Consortium ; Coppola, Antonietta...
10.1111/epi.14683.  , 2019
Link: http://hdl.handle.net/10..
 
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10

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Medi..:

Helbig, I ; Lopez-Hernandez, T ; Shor, O...
https://discovery.ucl.ac.uk/id/eprint/10076749/1/Sisodiya_AJHG-D-19-00045_R3_upload_proof_edited.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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11

Diagnostic implications of genetic copy number variation in..:

Coppola, A ; Cellini, E ; Stamberger, H...
https://discovery.ucl.ac.uk/id/eprint/10071080/1/Coppola_et_al-2019-Epilepsia.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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12

Diagnostic implications of genetic copy number variation in..:

Coppola A1 ; 2 3 ; Cellini E4...
info:eu-repo/semantics/altIdentifier/pmid/30866059.  , 2019
Link: http://hdl.handle.net/11..
 
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13

De novo variants in neurodevelopmental disorders with epile..:

EuroEPINOMICS RES Consortium ; Heyne, Henrike O. ; Singh, Tarjinder...
Nature Genetics.  50 (2018)  7 - p. 1048-1053 , 2018
Link: https://doi.org/10.1038/..
 
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14

De Novo Mutations in Synaptic Transmission Genes Including ..:

Appenzeller, Silke ; Balling, Rudi ; Barisic, Nina...
10.1016/j.ajhg.2014.08.013.  , 2018
Link: http://hdl.handle.net/10..
 
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15

Application of rare variant transmission disequilibrium tes..:

Epi4K Consortium ; EuroEPINOMICS-RES Consortium ; Epilepsy Phenome Genome Project
qt82j6m40z.  , 2017
Link: https://escholarship.org..
 
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