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1 . Academic Journal
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia
저자
by
Okumura, Akihisa
;
Shimojima, Keiko
;
Kurahashi, Hirokazu
;
Numoto, Shingo
;
Shimada, Shino
, et al.
소스
In
Seizure: European Journal of Epilepsy
October 2019 71:1-5
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7 . Academic Journal
Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly
저자
by
Shimojima, Keiko
;
Okamoto, Nobuhiko
;
Goel, Himanshu
;
Ondo, Yumiko
;
Yamamoto, Toshiyuki
.
소스
In
European Journal of Medical Genetics
December 2017 60(12):650-654
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7 . Academic Journal
Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis
저자
by
Shimojima, Keiko
;
Ondo, Yumiko
;
Matsufuji, Mayumi
;
Sano, Nozomi
;
Tsuru, Hisashi
, et al.
소스
In
European Journal of Medical Genetics
November 2016 59(11):559-563
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7 . Academic Journal
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly
저자
by
Shimojima, Keiko
;
Narai, Satoshi
;
Togawa, Masami
;
Doumoto, Tomotsune
;
Sangu, Noriko
, et al.
소스
In
European Journal of Medical Genetics
October 2016 59(10):502-506
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7 . Academic Journal
Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy
저자
by
Yamamoto, Toshiyuki
;
Shimojima, Keiko
;
Yano, Tamami
;
Ueda, Yuki
;
Takayama, Rumiko
, et al.
소스
In
Brain and Development
March 2016 38(3):280-284
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7 . Academic Journal
Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations
저자
by
Sangu, Noriko
;
Shimojima, Keiko
;
Akihisa, Okumura
;
Ando, Tomohiro
;
Yamamoto, Toshiyuki
.
소스
In
Epilepsy Research
December 2015 118:10-13
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7 . Academic Journal
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease
저자
by
Shimada, Shino
;
Shimojima, Keiko
;
Sangu, Noriko
;
Hoshino, Ai
;
Hachiya, Yasuo
, et al.
소스
In
Brain and Development
November 2015 37(10):960-966
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7 . Academic Journal
Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients
저자
by
Yamamoto, Toshiyuki
;
Shimada, Shino
;
Shimojima, Keiko
;
Sangu, Noriko
;
Ninomiya, Shinsuke
, et al.
소스
In
European Journal of Medical Genetics
September 2015 58(9):492-496
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7 . Academic Journal
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications
저자
by
Shimada, Shino
;
Shimojima, Keiko
;
Okamoto, Nobuhiko
;
Sangu, Noriko
;
Hirasawa, Kyoko
, et al.
소스
In
Brain and Development
May 2015 37(5):515-526
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7 . Academic Journal
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus–Merzbacher disease
저자
by
Shimojima, Keiko
;
Okumura, Akihisa
;
Ikeno, Mitsuru
;
Nishimura, Akira
;
Saito, Akira
, et al.
소스
In
Brain and Development
March 2015 37(3):281-285
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