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Abe‐Hatano, Chihiro
12
results:
Search for persons
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Format
Online (12)
Mediatypes
Articles (Online) (8)
OpenAccess-fulltext (4)
Sorted by: Relevance
Sorted by: Year
?
1
Divergent variant patterns among 19 patients withRubinstein..:
Enomoto, Yumi
;
Yokoi, Takayuki
;
Tsurusaki, Yoshinori
...
Clinical Genetics. 101 (2022) 3 - p. 335-345 , 2022
Link:
https://doi.org/10.1111/..
?
2
Whole genome sequencing of 45 Japanese patients with intell..:
Abe‐Hatano, Chihiro
;
Iida, Aritoshi
;
Kosugi, Shunichi
...
American Journal of Medical Genetics Part A. 185 (2021) 5 - p. 1468-1480 , 2021
Link:
https://doi.org/10.1002/..
?
3
Diagnostic utility of integrated analysis of exome and tran..:
Yamada, Mamiko
;
Shiraishi, Yuichi
;
Uehara, Tomoko
...
Molecular Genetics & Genomic Medicine. 8 (2020) 9 - p. , 2020
Link:
https://doi.org/10.1002/..
?
4
Update of the genotype and phenotype ofKMT2DandKDM6Aby gene..:
Murakami, Hiroaki
;
Tsurusaki, Yoshinori
;
Enomoto, Keisuke
...
American Journal of Medical Genetics Part A. 182 (2020) 10 - p. 2333-2344 , 2020
Link:
https://doi.org/10.1002/..
?
5
Long-term changes in electroencephalogram findings in a gir..:
Hashimoto, Kazuhiko
;
Baba, Shimpei
;
Nakagawa, Eiji
...
Brain and Development. 44 (2022) 8 - p. 551-557 , 2022
Link:
https://doi.org/10.1016/..
?
6
CNV analysis using whole exome sequencing identified bialle..:
Enomoto, Yumi
;
Tsurusaki, Yoshinori
;
Yokoi, Takayuki
...
European Journal of Medical Genetics. 63 (2020) 1 - p. 103610 , 2020
Link:
https://doi.org/10.1016/..
?
7
Ten novel insertion/deletion variants in MECP2 identified i..:
Takeshita, Eri
;
Iida, Aritoshi
;
Abe-Hatano, Chihiro
...
Human Genome Variation. 6 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1038/..
?
8
Characteristics of epilepsy in patients with Kabuki syndrom..:
Kurahashi, Naoko
;
Miyake, Noriko
;
Mizuno, Seiji
...
Brain and Development. 39 (2017) 8 - p. 672-677 , 2017
Link:
https://doi.org/10.1016/..
?
9
Diagnostic utility of integrated analysis of exome and tran..:
Yamada, Mamiko
;
Shiraishi, Yuichi
;
Uehara, Tomoko
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503209/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
10
Diagnostic utility of integrated analysis of exome and tran..:
Mamiko Yamada
;
Yuichi Shiraishi
;
Tomoko Uehara
...
https://doi.org/10.1002/mgg3.1364. , 2020
Link:
https://doi.org/10.1002/..
?
11
A novel PAK3 pathogenic variant identified in two siblings ..:
Iida, Aritoshi
;
Takano, Kyoko
;
Takeshita, Eri
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913141/. , 2019
Link:
http://www.ncbi.nlm.nih...
?
12
Ten novel insertion/deletion variants in MECP2 identified i..:
Takeshita, Eri
;
Iida, Aritoshi
;
Abe-Hatano, Chihiro
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804785/. , 2019
Link:
http://www.ncbi.nlm.nih...
1-12
