Okashah, Rebecca
27  Ergebnisse:
Personensuche X
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4

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf.  , 2022
 
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5

Homozygous splice-variants in human ARV1 cause GPI-anchor s..:

Davids, Mariska ; Menezes, Minal ; Guo, Yiran...
Molecular Genetics and Metabolism.  130 (2020)  1 - p. 49-57 , 2020
 
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8

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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10

Mutations in KEOPS-complex genes cause nephrotic syndrome w..:

Braun, Daniela A ; Rao, Jia ; Mollet, Geraldine...
https://research.rug.nl/en/publications/c5173590-47c8-483c-ab87-d15b57b742b3.  , 2017
 
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14

5p deletions: Current knowledge and future directions:

Nguyen, Joanne M. ; Qualmann, Krista J. ; Okashah, Rebecca...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  169 (2015)  3 - p. 224-238 , 2015
 
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