Rousseau, Justine
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3

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-Yi...
Guo , L , Salian , S , Xue , J-Y , Rath , N , Rousseau , J , Kim , H , Ehresmann , S , Moosa , S , Nakagawa , N , Kuroda , H , Clayton-Smith , J , Wang , J , Banka , S , Jackson , A , Wei , Z-J , Hüning , I , Brunet , T , Ohashi , H , Thomas , M F , Bupp , C , Miyake , N , Matsumoto , N , Mendoza-Londono , R , Costain , G , Hahn , G , Di Donato , N , Yigit , G , Yamada , T , Nishimura , G , Ansel , K M , Wollnik , B , Hrabě de Angelis , M , Mégarbané , A , Rosenfeld , J A , Heissmeyer , V , Ikegawa , S & Campeau , P M 2023 , ' Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans ' , American Journal of Human Genetics , vol. 110 , no. 7 , pp. 1068-1085 . https://doi.org/10.1016/j.ajhg.2023.06.001.  , 2023
 
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7

Novel diagnostic DNA methylation episignatures expand and r..:

Levy, Michael A ; McConkey, Haley ; Kerkhof, Jennifer...
Levy , M A , McConkey , H , Kerkhof , J , Barat-Houari , M , Bargiacchi , S , Biamino , E , Bralo , M P , Cappuccio , G , Ciolfi , A , Clarke , A , DuPont , B R , Elting , M W , Faivre , L , Fee , T , Fletcher , R S , Cherik , F , Foroutan , A , Friez , M J , Gervasini , C , Haghshenas , S , Hilton , B A , Jenkins , Z , Kaur , S , Lewis , S , Louie , R J , Maitz , S , Milani , D , Morgan , A T , Oegema , R , Østergaard , E , Pallares , N R , Piccione , M , Pizzi , S , Plomp , A S , Poulton , C , Reilly , J , Relator , R , Rius , R , Robertson , S , Rooney , K , Rousseau , J , Santen , G W E , Santos-Simarro , F , Schijns , J , Squeo , G M , St John , M , Thauvin-Robinet , C , Traficante , G , van der Sluijs , P J , Vergano , S A , Vos , N , Walden , K K , Azmanov , D , Balci , T , Banka , S , Gecz , J , Henneman , P , Mannens , M M A M , Roscioli , T , Siu , V , Amor , D J , Baynam , G , Bend , E G , Boycott , K , Brunetti-Pierri , N , Campeau , P M , Christodoulou , ....  , 2022
 
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Author Correction: CHD3 helicase domain mutations cause a n..:

Snijders Blok, Lot ; Rousseau, Justine ; Twist, Joanna...
Snijders Blok , L , Rousseau , J , Twist , J , Ehresmann , S , Takaku , M , Venselaar , H , Rodan , L H , Nowak , C B , Douglas , J , Swoboda , K J , Steeves , M A , Sahai , I , Stumpel , C T R M , Stegmann , A P A , Wheeler , P , Willing , M , Fiala , E , Kochhar , A , Gibson , W T , Cohen , A S A , Agbahovbe , R , Innes , A M , Au , P Y B , Rankin , J , Anderson , I J , Skinner , S A , Louie , R J , Warren , H E , Afenjar , A , Keren , B , Nava , C , Buratti , J , Isapof , A , Rodriguez , D , Lewandowski , R , Propst , J , van Essen , T , Choi , M , Lee , S , Chae , J H , Price , S , Schnur , R E , Douglas , G , Wentzensen , I M , Zweier , C , Reis , A , Bialer , M G , Moore , C , Jansen , S , Brunner , H G , DDD Study , Fisher , S E & Campeau , P M 2019 , ' Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language ' , Nature Communications , vol. 10 , 2079 . https://doi.org/10.1038/s41467....  , 2019
 
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