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Shichiji, Minobu
26  results:
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1

Rare mosaic variant of GJA1 in a patient with a neurodevelo..:

Shimomura, Rina ; Yanagishita, Tomoe ; Ishiguro, Kumiko...
Human Genome Variation.  11 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

The Clinical Course and Treatment of a Case of Refractory S..:

Shibuya, Moriei ; Shichiji, Minobu ; Ikeda, Miki...
The Tohoku Journal of Experimental Medicine.  262 (2024)  1 - p. 29-31 , 2024
Link: https://doi.org/10.1620/..
 
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3

Author Correction: Efficacy of steroid therapy for Fukuyama..:

Murakami, Terumi ; Sato, Takatoshi ; Adachi, Michiru...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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4

Urinary titin as a biomarker in Fukuyama congenital muscula..:

Sato, Takatoshi ; Awano, Hiroyuki ; Ishiguro, Kumiko...
Neuromuscular Disorders.  31 (2021)  3 - p. 194-197 , 2021
Link: https://doi.org/10.1016/..
 
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5

Efficacy of steroid therapy for Fukuyama congenital muscula..:

Murakami, Terumi ; Sato, Takatoshi ; Adachi, Michiru...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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6

A short form of gross motor function measure for Fukuyama c..:

Sato, Takatoshi ; Adachi, Michiru ; Matsuo, Aya...
Brain and Development.  42 (2020)  5 - p. 383-388 , 2020
Link: https://doi.org/10.1016/..
 
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7

Renal dysfunction is rare in Fukuyama congenital muscular d..:

Ishigaki, Keiko ; Kato, Ikuko ; Murakami, Terumi...
Brain and Development.  41 (2019)  1 - p. 43-49 , 2019
Link: https://doi.org/10.1016/..
 
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8

Characteristic findings of skeletal muscle MRI in caveolino..:

Ishiguro, Kumiko ; Nakayama, Takahiro ; Yoshioka, Masaru...
Neuromuscular Disorders.  28 (2018)  10 - p. 857-862 , 2018
Link: https://doi.org/10.1016/..
 
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9

Identification of novel SNORD118 mutations in seven patient..:

Iwama, Kazuhiro ; Mizuguchi, Takeshi ; Takanashi, Jun‐ichi...
Clinical Genetics.  92 (2017)  2 - p. 180-187 , 2017
Link: https://doi.org/10.1111/..
 
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10

The gross motor function measure is valid for Fukuyama cong..:

Sato, Takatoshi ; Adachi, Michiru ; Nakamura, Kaho...
Neuromuscular Disorders.  27 (2017)  1 - p. 45-49 , 2017
Link: https://doi.org/10.1016/..
 
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11

Respiratory management of patients with Fukuyama congenital..:

Sato, Takatoshi ; Murakami, Terumi ; Ishiguro, Kumiko...
Brain and Development.  38 (2016)  3 - p. 324-330 , 2016
Link: https://doi.org/10.1016/..
 
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12

Extensive morphological and immunohistochemical characteriz..:

Shichiji, Minobu ; Biancalana, Valérie ; Fardeau, Michel...
Brain and Behavior.  3 (2013)  4 - p. 476-486 , 2013
Link: https://doi.org/10.1002/..
 
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13

A cryptic microdeletion including MBD5 occurring within the..:

Shichiji, Minobu ; Ito, Yasushi ; Shimojima, Keiko...
American Journal of Medical Genetics Part A.  161 (2013)  4 - p. 850-855 , 2013
Link: https://doi.org/10.1002/..
 
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14

CDKL5 alterations lead to early epileptic encephalopathy in..:

Liang, Jao-Shwann ; Shimojima, Keiko ; Takayama, Rumiko...
Epilepsia.  52 (2011)  10 - p. 1835-1842 , 2011
Link: https://doi.org/10.1111/..
 
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15

Loss-of-function mutation of collybistin is responsible for..:

Shimojima, Keiko ; Sugawara, Midori ; Shichiji, Minobu...
Journal of Human Genetics.  56 (2011)  8 - p. 561-565 , 2011
Link: https://doi.org/10.1038/..
 
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