Nishimura, Gen
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2

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-Yi...
Guo , L , Salian , S , Xue , J-Y , Rath , N , Rousseau , J , Kim , H , Ehresmann , S , Moosa , S , Nakagawa , N , Kuroda , H , Clayton-Smith , J , Wang , J , Banka , S , Jackson , A , Wei , Z-J , Hüning , I , Brunet , T , Ohashi , H , Thomas , M F , Bupp , C , Miyake , N , Matsumoto , N , Mendoza-Londono , R , Costain , G , Hahn , G , Di Donato , N , Yigit , G , Yamada , T , Nishimura , G , Ansel , K M , Wollnik , B , Hrabě de Angelis , M , Mégarbané , A , Rosenfeld , J A , Heissmeyer , V , Ikegawa , S & Campeau , P M 2023 , ' Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans ' , American Journal of Human Genetics , vol. 110 , no. 7 , pp. 1068-1085 . https://doi.org/10.1016/j.ajhg.2023.06.001.  , 2023
 
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A primer on skeletal dysplasias:

Handa, Atsuhiko ; Nishimura, Gen ; Zhan, Malia Xin..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891206/.  , 2021
 
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Hajdu-Cheney Syndrome:

Færgeman, Søren ; Gregersen, Pernille Axél ; Nishimura, Gen
Færgeman , S , Gregersen , P A & Nishimura , G 2021 , Hajdu-Cheney Syndrome . in Orphanet . Orphanet , Orpha.net ..  , 2021
 
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