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Yamamoto-Shimojima, Keiko
254  Ergebnisse:
Personensuche X
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1

A recurrent de novo ZSWIM6 variant in a Japanese patient wi..:

Yanagishita, Tomoe ; Eto, Kaoru ; Yamamoto-Shimojima, Keiko...
Human Genome Variation.  8 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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2

Deep intronic deletion in intron 3 of PLP1 is associated wi..:

Yamamoto-Shimojima, Keiko ; Akagawa, Hiroyuki ; Yanagi, Kumiko...
Human Genome Variation.  8 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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3

Novel COL4A1 mutations identified in infants with congenita..:

Ogura, Hiromi ; Ohga, Shouichi ; Aoki, Takako...
Human Genome Variation.  7 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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4

Complex chromosomal rearrangements of human chromosome 21 i..:

Imaizumi, Taichi ; Yamamoto-Shimojima, Keiko ; Yanagishita, Tomoe...
Human Genetics.  139 (2020)  12 - p. 1555-1563 , 2020
Link: https://doi.org/10.1007/..
 
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5

Novel LAMA2 variants identified in a patient with white mat..:

Yamamoto-Shimojima, Keiko ; Ono, Hiroaki ; Imaizumi, Taichi.
Human Genome Variation.  7 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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6

Analyses of breakpoint junctions of complex genomic rearran..:

Imaizumi, Taichi ; Yamamoto-Shimojima, Keiko ; Yanagishita, Tomoe..
Journal of Human Genetics.  65 (2020)  9 - p. 735-741 , 2020
Link: https://doi.org/10.1038/..
 
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7

Genomic backgrounds of Japanese patients with undiagnosed n..:

Yamamoto, Toshiyuki ; Imaizumi, Taichi ; Yamamoto-Shimojima, Keiko...
Brain and Development.  41 (2019)  9 - p. 776-782 , 2019
Link: https://doi.org/10.1016/..
 
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8

Three Japanese patients with 3p13 microdeletions involving ..:

Yamamoto-Shimojima, Keiko ; Okamoto, Nobuhiko ; Matsumura, Wataru..
Brain and Development.  41 (2019)  3 - p. 257-262 , 2019
Link: https://doi.org/10.1016/..
 
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9

Advantages of ddPCR in detection of PLP1 duplications:

Imaizumi, Taichi ; Yamamoto-Shimojima, Keiko ; Yamamoto, Toshiyuki
Intractable & Rare Diseases Research.  8 (2019)  3 - p. 198-202 , 2019
Link: https://doi.org/10.5582/..
 
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10

Phenotypic features of 1q41q42 microdeletion including WDR2..:

Yanagishita, Tomoe ; Yamamoto-Shimojima, Keiko ; Nakano, Sayaka...
Brain and Development.  41 (2019)  5 - p. 452-455 , 2019
Link: https://doi.org/10.1016/..
 
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11

Elucidation of the pathogenic mechanism and potential treat..:

Yamamoto-Shimojima, Keiko ; Imaizumi, Taichi ; Aoki, Yusuke...
Journal of Human Genetics.  64 (2019)  7 - p. 665-671 , 2019
Link: https://doi.org/10.1038/..
 
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12

Independent occurrence of de novo HSPD1 and HIP1 variants i..:

Yamamoto, Toshiyuki ; Yamamoto-Shimojima, Keiko ; Ueda, Yuki...
Human Genome Variation.  5 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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13

An episode of acute encephalopathy with biphasic seizures a..:

Shimada, Shino ; Oguni, Hirokazu ; Otani, Yui...
Brain and Development.  40 (2018)  9 - p. 813-818 , 2018
Link: https://doi.org/10.1016/..
 
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14

Identification of a rare homozygous SZT2 variant due to uni..:

Imaizumi, Taichi ; Kumakura, Akira ; Yamamoto-Shimojima, Keiko.
Intractable & Rare Diseases Research.  7 (2018)  4 - p. 245-250 , 2018
Link: https://doi.org/10.5582/..
 
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15

Enzymatic Changes in Red Blood Cells of Diamond-Blackfan An..:

Utsugisawa, Taiju ; Uchiyama, Toshitaka ; Toki, Tsutomu...
The Tohoku Journal of Experimental Medicine.  255 (2021)  1 - p. 49-55 , 2021
Link: https://doi.org/10.1620/..
 
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