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Misawa, Kazuharu
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Online (99)
Mediatypes
Articles (Online) (58)
OpenAccess-fulltext (41)
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1
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a..:
Inoue, Yuta
;
Tsuchida, Naomi
;
Kim, Chong Ae
...
Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
2
Detection of hidden intronic DDC variant in aromatic L-amin..:
Koshimizu, Eriko
;
Kato, Mitsuhiro
;
Misawa, Kazuharu
...
Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
3
A simple method for estimating time-irreversible nucleotide..:
Misawa, Kazuharu
;
Ootsuki, Ryo
NAR Genomics and Bioinformatics. 6 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1093/..
?
4
Long-read sequencing revealing intragenic deletions in exom..:
Fukuda, Hiromi
;
Mizuguchi, Takeshi
;
Doi, Hiroshi
...
Journal of Human Genetics. 68 (2023) 10 - p. 689-697 , 2023
Link:
https://doi.org/10.1038/..
?
5
A heterozygous germline deletion within USP8 causes severe ..:
Sakamoto, Masamune
;
Kurosawa, Kenji
;
Tanoue, Koji
...
Journal of Human Genetics. 69 (2023) 2 - p. 85-90 , 2023
Link:
https://doi.org/10.1038/..
?
6
Correction: A novel homozygous CHMP1A variant arising from ..:
Sakamoto, Masamune
;
Shiiki, Toshihide
;
Matsui, Shuji
...
Journal of Human Genetics. 68 (2023) 4 - p. 299-299 , 2023
Link:
https://doi.org/10.1038/..
?
7
AAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth d..:
Yoshioka, Yuki
;
Taniguchi, Juliana Bosso
;
Homma, Hidenori
...
Communications Medicine. 3 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
8
Genome-wide identification of tandem repeats associated wit..:
Hamanaka, Kohei
;
Yamauchi, Daisuke
;
Koshimizu, Eriko
...
Genome Research. 33 (2023) 3 - p. 435-447 , 2023
Link:
https://doi.org/10.1101/..
?
9
Distal arthrogryposis in a girl arising from a novel TNNI2 ..:
Seyama, Rie
;
Uchiyama, Yuri
;
Kaneshi, Yosuke
...
Journal of Human Genetics. 68 (2023) 5 - p. 363-367 , 2023
Link:
https://doi.org/10.1038/..
?
10
Novel missense variants cause intermediate phenotypes in th..:
Utsuno, Yasuhiro
;
Hamada, Keisuke
;
Hamanaka, Kohei
...
Journal of Human Genetics. 69 (2023) 2 - p. 69-77 , 2023
Link:
https://doi.org/10.1038/..
?
11
Biallelic structural variations withinFGF12detected by long..:
Ohori, Sachiko
;
Miyauchi, Akihiko
;
Osaka, Hitoshi
...
Life Science Alliance. 6 (2023) 8 - p. e202302025 , 2023
Link:
https://doi.org/10.26508..
?
12
A missense variant at the RAC1-PAK1 binding site of RAC1 in..:
Seyama, Rie
;
Nishikawa, Masashi
;
Uchiyama, Yuri
...
Scientific Reports. 13 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
13
Publisher Correction: A novel NONO variant that causes deve..:
Itai, Toshiyuki
;
Sugie, Atsushi
;
Nitta, Yohei
...
Scientific Reports. 13 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
14
Complete SAMD12 repeat expansion sequencing in a four-gener..:
Mizuguchi, Takeshi
;
Toyota, Tomoko
;
Koshimizu, Eriko
...
Journal of Human Genetics. 68 (2023) 12 - p. 875-878 , 2023
Link:
https://doi.org/10.1038/..
?
15
A novel NONO variant that causes developmental delay and ca..:
Itai, Toshiyuki
;
Sugie, Atsushi
;
Nitta, Yohei
...
Scientific Reports. 13 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
1-15