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Yamamoto Shimojima, Keiko
256
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Online (256)
Mediatypes
Articles (Online) (203)
OpenAccess-fulltext (53)
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1
Long‐read sequence analysis for clustered genomic copy numb..:
Tamura, Takeaki
;
Yamamoto Shimojima, Keiko
;
Okamoto, Nobuhiko
...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 112-119 , 2022
Link:
https://doi.org/10.1002/..
?
2
Interstitial deletions in the proximal regions of 6q: 12 or..:
Machida, Osamu
;
Yamamoto Shimojima, Keiko
;
Shiihara, Takashi
...
Intractable & Rare Diseases Research. 11 (2022) 3 - p. 143-148 , 2022
Link:
https://doi.org/10.5582/..
?
3
Interstitial microdeletions of 3q26.2q26.31 in two patients..:
Tamura, Takeaki
;
Yamamoto Shimojima, Keiko
;
Shiihara, Takashi
...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 400-407 , 2022
Link:
https://doi.org/10.1002/..
?
4
Glass syndrome derived from chromosomal breakage downstream..:
Shimojima Yamamoto, Keiko
;
Shimomura, Rina
;
Shoji, Hiromichi
.
Brain and Development. , 2024
Link:
https://doi.org/10.1016/..
?
5
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/..
?
6
Xq22 deletion involving TCEAL1 in a female patient with ear..:
Shimojima Yamamoto, Keiko
;
Itagaki, Yusuke
;
Tanaka, Kazuki
..
Human Genome Variation. 11 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
7
Uniparental maternal tetrasomy X co-occurrence with paterna..:
Shimojima Yamamoto, Keiko
;
Yamamoto, Sakurako
;
Imaizumi, Taichi
..
Human Genome Variation. 11 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
8
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with ..:
Tamura, Takeaki
;
Shimojima Yamamoto, Keiko
;
Tohyama, Jun
...
Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
9
Haploinsufficiency of NKX2-1 is likely to contribute to dev..:
Machida, Osamu
;
Sakamoto, Haruko
;
Shimojima Yamamoto, Keiko
...
Intractable & Rare Diseases Research. 13 (2024) 1 - p. 36-41 , 2024
Link:
https://doi.org/10.5582/..
?
10
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients w..:
Nakahara, Erina
;
Yamamoto, Keiko Shimojima
;
Ogura, Hiromi
...
Human Genome Variation. 10 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
11
Identification of small-sized intrachromosomal segments at ..:
Shimojima Yamamoto, Keiko
;
Tamura, Takeaki
;
Okamoto, Nobuhiko
...
Journal of Human Genetics. , 2023
Link:
https://doi.org/10.1038/..
?
12
Preimplantation genetic testing using comprehensive genomic..:
Yamazaki, Aya
;
Kuroda, Tomoko
;
Kawasaki, Nami
...
Journal of Human Genetics. 69 (2023) 1 - p. 41-45 , 2023
Link:
https://doi.org/10.1038/..
?
13
Biallelic KCTD3 nonsense variant derived from paternal unip..:
Shimojima Yamamoto, Keiko
;
Yoshimura, Ayumi
;
Yamamoto, Toshiyuki
Human Genome Variation. 10 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
14
Breakpoint analysis for cytogenetically balanced translocat..:
Tamura, Takeaki
;
Shimojima Yamamoto, Keiko
;
Imaizumi, Taichi
...
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1632-1638 , 2023
Link:
https://doi.org/10.1002/..
?
15
A Novel SPTA1 Mutation in a Patient with Hereditary Spheroc..:
Nato, Yuma
;
Kageyama, Yuki
;
Suzuki, Kazutaka
...
Internal Medicine. 62 (2023) 1 - p. 107-111 , 2023
Link:
https://doi.org/10.2169/..
1-15