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Miyatake, Satoko
227
results:
Format
Online (227)
Mediatypes
Articles (Online) (180)
OpenAccess-fulltext (47)
Sorted by: Relevance
Sorted by: Year
?
1
Hypohidrotic ectodermal dysplasia with influenza-associated..:
Yoshida, Takanobu
;
Kido, Jun
;
Ogata, Mika
...
Brain and Development Case Reports. 2 (2024) 2 - p. 100018 , 2024
Link:
https://doi.org/10.1016/..
?
2
Complex chromosomal 6q rearrangements revealed by combined ..:
Ohori, Sachiko
;
Numabe, Hironao
;
Mitsuhashi, Satomi
...
Genomics. 116 (2024) 5 - p. 110894 , 2024
Link:
https://doi.org/10.1016/..
?
3
A case of Bloom syndrome manifesting with therapy-related m..:
Ohashi, Takuma
;
Kunimoto, Hiroyoshi
;
Nukui, Jun
...
International Journal of Hematology. 119 (2024) 5 - p. 603-607 , 2024
Link:
https://doi.org/10.1007/..
?
4
A family with neuronal intranuclear inclusion disease with ..:
Watanabe, Kazuki
;
Bunai, Tomoyasu
;
Sakamoto, Masamune
...
Journal of Neurology. , 2024
Link:
https://doi.org/10.1007/..
?
5
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/..
?
6
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/..
?
7
Intermediate phenotype between CMT2Z and DIGFAN associated ..:
Hanada, Kenta
;
Osaki, Yusuke
;
Miyamoto, Ryosuke
...
Human Genome Variation. 11 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
8
A Novel Mutation of VPS13D-related Disorders with Parkinson..:
Harada, Shizuka
;
Azuma, Yoshiteru
;
Misumi, Yohei
...
Internal Medicine. , 2024
Link:
https://doi.org/10.2169/..
?
9
Biallelic null variants in PNPLA8 cause microcephaly by red..:
Nakamura, Yuji
;
Shimada, Issei S
;
Maroofian, Reza
...
Brain. , 2024
Link:
https://doi.org/10.1093/..
?
10
Reduced histone H3K4 trimethylation in oral mucosa of patie..:
Sugeno, Naoto
;
Kumada, Satoko
;
Kashii, Hirofumi
...
Parkinsonism & Related Disorders. 124 (2024) - p. 107018 , 2024
Link:
https://doi.org/10.1016/..
?
11
FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion i..:
Matsushima, Masaaki
;
Yaguchi, Hiroaki
;
Koshimizu, Eriko
...
Journal of Neurology. 271 (2024) 6 - p. 3643-3647 , 2024
Link:
https://doi.org/10.1007/..
?
12
A case of early-infantile onset, rapidly progressive leukoe..:
Kodama, Kazuo
;
Aoyama, Hiromi
;
Murakami, Yoshimi
...
Radiology Case Reports. 18 (2023) 3 - p. 1217-1220 , 2023
Link:
https://doi.org/10.1016/..
?
13
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/..
?
14
Association between cerebrospinal fluid parameters and deve..:
Nabatame, Shin
;
Tanigawa, Junpei
;
Tominaga, Koji
...
Journal of the Neurological Sciences. 447 (2023) - p. 120597 , 2023
Link:
https://doi.org/10.1016/..
?
15
Skeletal anomaly and opisthotonus in early-onset epileptic ..:
Kawano, Osamu
;
Saito, Takashi
;
Sumitomo, Noriko
...
Brain and Development. 45 (2023) 4 - p. 231-236 , 2023
Link:
https://doi.org/10.1016/..
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