Bhoj, E.J.
142  results:
Search for persons X
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3

De novo variants in MED12 cause X-linked syndromic neurodev..:

Polla, D. L ; Bhoj, E. J ; Verheij, J. B. G. M...
Polla , D L , Bhoj , E J , Verheij , J B G M , Wassink-Ruiter , J S K , Reis , A , Deshpande , C , Gregor , A , Hill-Karfe , K , Vulto-van Silfhout , A T , Pfundt , R , Bongers , E M H F , Hakonarson , H , Berland , S , Gradek , G , Banka , S , Chandler , K , Gompertz , L , Huffels , S C , Stumpel , C T R M , Wennekes , R , Stegmann , A P A , Reardon , W , Leenders , E K S M , de Vries , B B A , Li , D , Zackai , E , Ragge , N , Lynch , S A , Cuddapah , S , van Bokhoven , H , Zweier , C & de Brouwer , A P M 2021 , ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ' , Genetics in Medicine , vol. 23 , no. 4 , pp. 645-652 . https://doi.org/10.1038/s41436-020-01040-6.  , 2021
 
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4

De novo variants in CACNA1E found in patients with intellec..:

Royer-Bertrand, B ; Jequier Gygax, M ; Cisarova, K...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s13229-021-00473-3.  , 2021
 
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5

De novo variants in MED12 cause X-linked syndromic neurodev..:

Polla, D. L ; Bhoj, E. J ; Verheij, J. B. G. M...
https://research.rug.nl/en/publications/f8aac73e-1225-4b93-8438-19388e476518.  , 2021
 
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6

Bi-allelic variants in OGDHL cause a neurodevelopmental spe..:

Yap Z. Y ; Efthymiou S ; Seiffert S...
info:eu-repo/semantics/altIdentifier/pmid/34800363.  , 2021
 
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7

Bi-allelic variants in OGDHL cause a neurodevelopmental spe..:

Yap, ZY ; Efthymiou, S ; Seiffert, S...
https://discovery.ucl.ac.uk/id/eprint/10141141/7/Efthymiou_AJHG-D-21-00326_R3%20%281028%202021%29_extracted.pdf.  , 2021
 
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Histone H3.3 beyond cancer: Germline mutations in Histone 3..:

Bryant, L ; Li, D ; Cox, S.G...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.abc9207.  , 2020
 
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9

Novel truncating mutations in CTNND1 cause a dominant crani..:

Alharatani, R ; Ververi, A ; Beleza-Meireles, A...
https://openaccess.sgul.ac.uk/id/eprint/112552/1/ddaa050.pdf.  , 2020
 
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10

De Novo Variants in CNOT1 , a Central Component of the CCR4..:

Vissers, L.E.L.M ; Kalvakuri, S ; de Boer, E...
Vissers , L E L M , Kalvakuri , S , de Boer , E , Geuer , S , Oud , M , van Outersterp , I , Kwint , M , Witmond , M , Kersten , S , Polla , D L , Weijers , D , Begtrup , A , McWalter , K , Ruiz , A , Gabau , E , Morton , J E V , Griffith , C , Weiss , K , Gamble , C , Bartley , J , Vernon , H J , Brunet , K , Ruivenkamp , C , Kant , S G , Kruszka , P , Larson , A , Afenjar , A , de Villemeur , T B , Nugent , K , Raymond , F L , Venselaar , H , Demurger , F , Soler-Alfonso , C , Li , D , Bhoj , E , Hayes , I , Hamilton , N P , Ahmad , A , Fisher , R , van den Born , M , Willems , M , Sorlin , A , Delanne , J , Moutton , S , Christophe , P , Mau-Them , F T , Vitobello , A , Goel , H , Massingham , L , Phornphutkul , C , Vreeburg , M , DDD Study & Bodmer , R 2020 , ' De Novo Variants in CNOT1 , a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay ' , American Journal of Human Genetics , vol.....  , 2020
 
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15

Role of CAMK2D in neurodevelopment and associated condition:

Rigter, Pomme M.F. ; de Konink, Charlotte ; Dunn, Matthew J....
The American Journal of Human Genetics.  111 (2024)  2 - p. 364-382 , 2024
 
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