Smeland, Marie F.
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2

An autosomal-dominant childhood-onset disorder associated w..:

Mah-Som, Annelise Y. ; Daw, Jil ; Huynh, Diana...
The American Journal of Human Genetics.  110 (2023)  11 - p. 1959-1975 , 2023
 
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4

Further delineation of the clinical spectrum of White–Sutto..:

Murch, Oliver ; Jain, Vani ; Benneche, Andreas...
European Journal of Human Genetics.  30 (2021)  1 - p. 95-100 , 2021
 
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9

Novel loss-of-function variants expand ABCC9-related intell..:

Efthymiou, Stephanie ; Scala, Marcello ; Nagaraj, Vini...
https://discovery.ucl.ac.uk/id/eprint/10186024/1/Efthymiou_awae010.pdf.  , 2024
 
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10

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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15

An autosomal-dominant childhood-onset disorder associated w..:

Mah-Som, Annelise Y ; Daw, Jil ; Huynh, Diana...
https://ars.els-cdn.com/content/image/1-s2.0-S0002929723003609-mmc1.pdf.  , 2023
 
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