Cappuccio, Richard
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2

Truncating SRCAP variants outside the Floating-Harbor syndr..:

Rots, Dmitrijs ; Chater-Diehl, Eric ; Dingemans, Alexander J M...
Rots , D , Chater-Diehl , E , Dingemans , A J M , Goodman , S J , Siu , M T , Cytrynbaum , C , Choufani , S , Hoang , N , Walker , S , Awamleh , Z , Charkow , J , Meyn , S , Pfundt , R , Rinne , T , Gardeitchik , T , de Vries , B B A , Deden , A C , Leenders , E , Kwint , M , Stumpel , C T R M , Stevens , S J C , Vermeulen , J R , van Harssel , J V T , Bosch , D G M , van Gassen , K L I , van Binsbergen , E , de Geus , C M , Brackel , H , Hempel , M , Lessel , D , Denecke , J , Slavotinek , A , Strober , J , Crunk , A , Folk , L , Wentzensen , I M , Yang , H , Zou , F , Millan , F , Person , R , Xie , Y , Liu , S , Ousager , L B , Larsen , M , Schultz-Rogers , L , Morava , E , Klee , E W , Berry , I R , Campbell , J , Lindstrom , K , Pruniski , B , Radley , J A , Phornphutkul , C , Schmidt , B , Wilson , W G , Õunap , K , Reinson , K , Pajusalu , S , van Haeringen , A , Ruivenkamp , C , Cuperus , R , Santos-Simarro , F , Palomares-Bralo , M , Pacio-Míguez , M , R....  , 2021
 
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopme..:

Haijes, Hanneke A ; Koster, Maria J.E ; Rehmann, Holger...
Haijes , H A , Koster , M J E , Rehmann , H , Li , D , Hakonarson , H , Cappuccio , G , Hancarova , M , Lehalle , D , Reardon , W , Schaefer , G B , Lehman , A , van de Laar , I M B H , Tesselaar , C D , Turner , C , Goldenberg , A , Patrier , S , Thevenon , J , Pinelli , M , Brunetti-Pierri , N , Prchalová , D , Havlovicová , M , Vlckova , M , Sedláček , Z , Lopez , E , Ragoussis , V , Pagnamenta , A T , Kini , U , Vos , H R , van Es , R M , van Schaik , R F M A , van Essen , T A J , Kibaek , M , Taylor , J C , Sullivan , J , Shashi , V , Petrovski , S , Fagerberg , C , Martin , D M , van Gassen , K L I , Pfundt , R , Falk , M J , McCormick , E M , Timmers , H T M & van Hasselt , P M 2019 , ' De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia ' , American Journal of Human Genetics , vol. 105 , no. 2 , pp. 283-301 . https://doi.org/10.1016/j.ajhg.2019.06.016.  , 2019
 
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2022 World Hypertension League, Resolve To Save Lives and I..:

Campbell, Norm RC ; Whelton, Paul K ; Orias, Marcelo...
https://discovery.ucl.ac.uk/id/eprint/10149849/1/Williams_s41371-022-00690-0-1.pdf.  , 2022
 
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Association analyses of 249,796 individuals reveal 18 new l..:

Speliotes, Elizabeth K ; Willer, Cristen J ; Berndt, Sonja I...
https://researchonline.lshtm.ac.uk/id/eprint/2611/1/nihms237282.pdf.  , 2010
 
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15

Polymorphisms in the WNK1 Gene Are Associated with Blood Pr..:

Newhouse, Stephen ; Farrall, Martin ; Wallace, Chris...
Newhouse , S , Farrall , M , Wallace , C , Hoti , M , Burke , B , Howard , P , Onipinla , A , Lee , K , Shaw-Hawkins , S , Dobson , R , Brown , M , Samani , N J , Dominiczak , A F , Connell , J M , Lathrop , G M , Kooner , J , Chambers , J , Elliott , P , Clarke , R , Collins , R , Laan , M , Org , E , Juhanson , P , Veldre , G , Viigimaa , M , Eyheramendy , S , Cappuccio , F P , Ji , C , Iacone , R , Strazzullo , P , Kumari , M , Marmot , M , Brunner , E , Caulfield , M & Munroe , P B 2009 , ' Polymorphisms in the WNK1 Gene Are Associated with Blood Pressure Variation and Urinary Potassium Excretion ' , PL o S One , vol. 4 , no. 4 , e5003 , pp. N/A . https://doi.org/10.1371/journal.pone.0005003.  , 2009
 
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