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21 . Academic Journal
Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2
저자
by
Harahap, Nur Imma Fatimah
;
Niba, Emma Tabe Eko
;
Ar Rochmah, Mawaddah
;
Wijaya, Yogik Onky Silvana
;
Saito, Toshio
, et al.
소스
In
Brain and Development
September 2018 40(8):670-677
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27 . Academic Journal
Ambulatory capacity in Japanese patients with Duchenne muscular dystrophy
저자
by
Awano, Hiroyuki
;
Itoh, Chieko
;
Takeshima, Yasuhiro
;
Lee, Tomoko
;
Matsumoto, Masaaki
, et al.
소스
In
Brain and Development
June 2018 40(6):465-472
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27 . Academic Journal
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome
저자
by
Nakanishi, Keita
;
Nozu, Kandai
;
Hiramoto, Ryugo
;
Minamikawa, Shogo
;
Yamamura, Tomohiko
, et al.
소스
In
European Journal of Medical Genetics
December 2017 60(12):631-634
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27 . Academic Journal
Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup
저자
by
Matsumoto, Masaaki
;
Awano, Hiroyuki
;
Lee, Tomoko
;
Takeshima, Yasuhiro
;
Matsuo, Masafumi
, et al.
소스
In
Neuromuscular Disorders
November 2017 27(11):1023-1028
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27 . Academic Journal
Spinal muscular atrophy carriers with two SMN1 copies
저자
by
Ar Rochmah, Mawaddah
;
Awano, Hiroyuki
;
Awaya, Tomonari
;
Harahap, Nur Imma Fatimah
;
Morisada, Naoya
, et al.
소스
In
Brain and Development
November 2017 39(10):851-860
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27 . Academic Journal
Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy
저자
by
Yamamoto, Tetsushi
;
Taniguchi-Ikeda, Mariko
;
Awano, Hiroyuki
;
Matsumoto, Masaaki
;
Lee, Tomoko
, et al.
소스
In
Brain and Development
November 2017 39(10):861-868
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27 . Academic Journal
Clinical features in very early-onset demyelinating disease with anti-MOG antibody
저자
by
Nishiyama, Masahiro
;
Nagase, Hiroaki
;
Matsumoto, Masaaki
;
Tomioka, Kazumi
;
Awano, Hiroyuki
, et al.
소스
In
Brain and Development
October 2017 39(9):756-762
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27 . Academic Journal
Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA
저자
by
Ar Rochmah, Mawaddah
;
Harahap, Nur Imma Fatimah
;
Niba, Emma Tabe Eko
;
Nakanishi, Kenta
;
Awano, Hiroyuki
, et al.
소스
In
Brain and Development
October 2017 39(9):774-782
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27 . Conference
Development of Magneto-Optical Diffractive Deep Neural Network
저자
by
Sakaguchi, Hotaka
;
Fujita, Takumi
;
Zhang, Jian
;
Sumi, Satoshi
;
Awano, Hiroyuki
, et al.
소스
2023 IEEE International Magnetic Conference - Short Papers (INTERMAG Short Papers) Magnetic Conference - Short Papers (INTERMAG Short Papers), 2023 IEEE International. :1-2 May, 2023
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27 . Academic Journal
SMA mutations in SMN Tudor and C-terminal domains destabilize the protein
저자
by
Takarada, Toru
;
Ar Rochmah, Mawaddah
;
Harahap, Nur Imma Fatimah
;
Shinohara, Masakazu
;
Saito, Toshio
, et al.
소스
In
Brain and Development
August 2017 39(7):606-612
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