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21 . Academic Journal
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.
저자
by
Tomohiro Nakano
;
Yoji Sasahara
;
Atsuo Kikuchi
;
Kunihiko Moriya
;
Hidetaka Niizuma
, et al.
소스
Journal of Medical Genetics; Nov2022, Vol. 59 Issue 11, p1116-1122, 7p
Full Text (BMJ Journals)
Web of Science
Scopus
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27 . Academic Journal
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
저자
by
Yuta Narishige
;
Hisao Yaoita
;
Moriei Shibuya
;
Miki Ikeda
;
Kaori Kodama
, et al.
소스
Tohoku Journal of Experimental Medicine; Apr2022, Vol. 256 Issue 4, p321-326, 6p
Open Access (JSTAGE)
Web of Science
Scopus
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27 .
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility
저자
by
Maako Kawamura
;
Hidekazu Shirota
;
Tetsuya Niihori
;
Keigo Komine
;
Masanobu Takahashi
, et al.
소스
Journal of Human Genetics
. 68:399-408
Web of Science
Scopus
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27 . Academic Journal
Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea.
저자
by
Takashi Uchida
;
Tasuku Suzuki
;
Atsuo Kikuchi
;
Fumihiko Kakuta
;
Takashi Ishige
, et al.
소스
Journal of Pediatric Gastroenterology & Nutrition; Sep2020, Vol. 71 Issue 3, p333-339, 7p
Full Text (LWW)
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27 .
Two‐year crizotinib monotherapy induced durable complete response of pediatric ALK‐positive inflammatory myofibroblastic tumor
저자
by
Akira Kaino
;
Hidetaka Niizuma
;
Saori Katayama
;
Masahiro Irie
;
Tomohiro Nakano
, et al.
소스
Pediatric Blood & Cancer
.
Full Text (Wiley)
Scopus
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27 .
NovelPOLEmutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus
저자
by
Tomohiro Nakano
;
Yoji Sasahara
;
Atsuo Kikuchi
;
Kunihiko Moriya
;
Hidetaka Niizuma
, et al.
소스
Journal of Medical Genetics
. 59:1116-1122
Full Text (BMJ Journals)
Open Access (OpenAIRE)
Web of Science
Scopus
JCR 저널정보
요약보기
Export
E-Mail
EndNote
RefWorks
27 .
Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation
저자
by
Shigeo Kure
;
Kumiko Yanagi
;
Yu Katata
;
Atsuo Kikuchi
;
Tadashi Kaname
, et al.
소스
Brain and Development
. 44:148-152
Full Text (Clinical Key)
Web of Science
Scopus
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27 .
A patient with early-onset SMAX3 and a novel variant of ATP7A
저자
by
Shigeo Kure
;
Atsuo Kikuchi
;
Gen Tamiya
;
Wakaba Endo
;
Jun Takayama
, et al.
소스
Brain and Development
. 44:63-67
Full Text (Clinical Key)
Web of Science
Scopus
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27 .
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the
ALG14
pathogenic variant
저자
by
Yu Katata
;
Saki Uneoka
;
Naoya Saijyo
;
Yu Aihara
;
Takamitsu Miyazoe
, et al.
소스
American Journal of Medical Genetics Part A
. 188:1293-1298
Web of Science
Scopus
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27 .
Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27)
저자
by
Akiko Saito-Hakoda
;
Atsuo Kikuchi
;
Tadahisa Takahashi
;
Yu Yokoyama
;
Noriko Himori
, et al.
소스
Journal of bone and mineral metabolism
.
Scopus
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