Ajeawung, Norbert F.
27  Ergebnisse:
Personensuche X
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4

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Ana..:

Ajeawung, Norbert F. ; Nguyen, Thi Tuyet Mai ; Lu, Linchao...
The American Journal of Human Genetics.  105 (2019)  3 - p. 625-630 , 2019
 
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7

DOORS syndrome and a recurrent truncating ATP6V1B2 variant:

Beauregard-Lacroix Eliane ; Pacheco-Cuellar Guillermo ; Ajeawung Norbert F...
http://publicatio.bibl.u-szeged.hu/25517/1/S1098360021025089token7EE2F2D345276691A88AED163A787FA24FE381806E75DED2D8617A92E1BDA02688858159D5026AFF5E6C33069231ACADoriginRegioneu-west-1originCreation20221111085947.  , 2021
 
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8

Clinicopathological Relationships in an Aged Case of DOORS ..:

Zádori Dénes ; Szalárdy Levente ; Reisz Zita...
http://publicatio.bibl.u-szeged.hu/19650/1/ZadoriD.-ClinicopathologicalrelationshipsinanagedcaseofDOORSsyndromewithap.Arg506xmutationintheATP6V1B2gene.pdf.  , 2020
 
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12

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndr..:

Yan, Kezhi ; Rousseau, Justine ; Littlejohn, Rebecca Okashah...
Yan , K , Rousseau , J , Littlejohn , R O , Kiss , C , Lehman , A , Rosenfeld , J A , Stumpel , C T R , Stegmann , A P A , Robak , L , Scaglia , F , Thi Tuyet Mai Nguyen , Fu , H , Ajeawung , N F , Camurri , M V , Li , L , Gardham , A , Panis , B , Almannai , M , Sacoto , M J G , Baskin , B , Ruivenkamp , C , Xia , F , Bi , W , Cho , M T , Potjer , T P , Santen , G W E , Parker , M J , Canham , N , McKinnon , M , Potocki , L , MacKenzie , J J , Roeder , E R , Campeau , P M , Yang , X-J , DDD Study & CAUSES Study 2017 , ' Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation ' , American Journal of Human Genetics , vol. 100 , no. 1 , pp. 91-104 . https://doi.org/10.1016/j.ajhg.2016.11.011.  , 2017
 
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