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Yamamoto‐Shimojima, Keiko
32  results:
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1

Induced pluripotent stem cells established from a female pa..:

Yamamoto‐Shimojima, Keiko ; Osawa, Mitsujiro ; Saito, Megumu K..
Congenital Anomalies.  61 (2020)  2 - p. 63-67 , 2020
Link: https://doi.org/10.1111/..
 
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2

Establishment of a simple and rapid method to detect MECP2 ..:

Imaizumi, Taichi ; Yamamoto‐Shimojima, Keiko ; Yamamoto, Hitoshi.
Congenital Anomalies.  60 (2019)  1 - p. 10-14 , 2019
Link: https://doi.org/10.1111/..
 
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3

De novo 1p35.2 microdeletion including PUM1 identified in a..:

Imaizumi, Taichi ; Mogami, Yukiko ; Okamoto, Nobuhiko..
Congenital Anomalies.  59 (2019)  6 - p. 193-194 , 2019
Link: https://doi.org/10.1111/..
 
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4

Primrose syndrome associated with unclassified immunodefici..:

Yamamoto‐Shimojima, Keiko ; Imaizumi, Taichi ; Akagawa, Hiroyuki..
American Journal of Medical Genetics Part A.  182 (2019)  3 - p. 521-526 , 2019
Link: https://doi.org/10.1002/..
 
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5

Natural histories of patients with Wolf‐Hirschhorn syndrome..:

Yamamoto‐Shimojima, Keiko ; Kouwaki, Masanori ; Kawashima, Yuki...
Congenital Anomalies.  59 (2018)  5 - p. 169-173 , 2018
Link: https://doi.org/10.1111/..
 
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6

Novel compound heterozygous EPG5 mutations consisted with a..:

Shimada, Shino ; Hirasawa, Kyoko ; Takeshita, Akiko...
American Journal of Medical Genetics Part A.  176 (2018)  12 - p. 2803-2807 , 2018
Link: https://doi.org/10.1002/..
 
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7

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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8

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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9

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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10

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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11

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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12

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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13

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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14

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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15

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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