Cueto-González, Anna M.
~ 200  Ergebnisse:
Personensuche X
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6

PUF60-related developmental disorder:A case series and phen..:

Grimes, H ; Ansari, M ; Ashraf, T...
Grimes , H , Ansari , M , Ashraf , T , Cueto-González , A M , Calder , A , Fernandez Alvarez , P , Lahiri , N , Repetto , G M , Scurr , I , Varghese , V & Low , K J 2023 , ' PUF60-related developmental disorder : A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants ' , American Journal of Medical Genetics, Part A , vol. 191 , no. 10 , pp. 2610-2622 . https://doi.org/10.1002/ajmg.a.63313.  , 2023
 
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7

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah E ; Bryant, Laura ; Wickramasekara, Rochelle N...
Sheppard , S E , Bryant , L , Wickramasekara , R N , Vaccaro , C , Robertson , B , Hallgren , J , Hulen , J , Watson , C J , Faundes , V , Duffourd , Y , Lee , P , Simon , M C , de la Cruz , X , Padilla , N , Flores-Mendez , M , Akizu , N , Smiler , J , Pellegrino Da Silva , R , Li , D , March , M , Diaz-Rosado , A , Peixoto de Barcelos , I , Choa , Z X , Dubourg , C , Journel , H , Demurger , F , Mulhern , M , Akman , C , Lippa , N , Andrews , M , Baldridge , D , Constantino , J , van Haeringen , A , Snoeck-Streef , I , Chow , P , Hing , A , Graham , J M , Au , M , Faivre , L , Mao , R , Palumbos , J , Viskochil , D , Gahl , W , Tifft , C , Macnamara , E , Hauser , N , Miller , R , Maffeo , J , Afenjar , A , Doummar , D , Keren , B , Arn , P , Macklin-Mantia , S , Meerschaut , I , Callewaert , B , Reis , A , Zweier , C , Brewer , C , Saggar , A , Smeland , M F , Kumar , A , Elmslie , F , Deshpande , C , Nizon , M , Cogne , B , van Ierland , Y , Wilke , M , van Slegtenhors....  , 2023
 
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