Diaz‐Rosado, Abdias
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1

Heterozygous variants in TBCK cause a mild neurologic syndr..:

Nair, Divya ; Diaz‐Rosado, Abdias ; Varella‐Branco, Elisa...
American Journal of Medical Genetics Part A.  191 (2023)  10 - p. 2508-2517 , 2023
 
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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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