ranguin, kara
23  Ergebnisse:
Personensuche X
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2

Expanding the phenotype of HNRNPU‐related neurodevelopmenta..:

Taylor, James ; Spiller, Michael ; Ranguin, Kara...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1497-1514 , 2022
 
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4

Novel interstitial 2q12.3q13 microdeletion predisposes to d..:

Huynh, Minh-Tuan ; Beneteau, Claire ; Marion, Gerard...
Molecular Genetics and Metabolism.  132 (2021)  - p. S222-S224 , 2021
 
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5

Speech and language deficits are central to SETBP1 haploins..:

Morgan, Angela ; Braden, Ruth ; Wong, Maggie M. K....
European Journal of Human Genetics.  29 (2021)  8 - p. 1216-1225 , 2021
 
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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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11

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah ; Bryant, Laura ; Wickramasekara, Rochelle...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.ade1463.  , 2023
 
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15

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah ; Bryant, Laura ; Wickramasekara, Rochelle...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.ade1463.  , 2023
 
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