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Matsumoto, Naomichi
898
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Online (898)
Mediatypes
Articles (Online) (689)
Bookchapter (Online) (6)
OpenAccess-fulltext (203)
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english (858)
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1
Long-term clinical course of adult-onset refractory epileps..:
Tsuburaya-Suzuki, Rie
;
Ohori, Sachiko
;
Hamanaka, Kohei
...
Frontiers in Genetics. 15 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
2
Progressive myoclonic epilepsy as an expanding phenotype of..:
Sonoda, Yuri
;
Fujita, Atsushi
;
Torio, Michiko
...
European Journal of Medical Genetics. 67 (2024) - p. 104895 , 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
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/..
?
5
Advantages of whole-exome sequencing over immunomapping in ..:
Kelmann, Samantha Vernaschi
;
Stephan, Bruno de Oliveira
;
Barbosa, Silvia Maria de Macedo
...
Anais Brasileiros de Dermatologia. 99 (2024) 3 - p. 350-356 , 2024
Link:
https://doi.org/10.1016/..
?
6
A de novo dominant-negative variant is associated with OTUL..:
Takeda, Yukiko
;
Ueki, Masahiro
;
Matsuhiro, Junpei
...
Journal of Experimental Medicine. 221 (2024) 6 - p. , 2024
Link:
https://doi.org/10.1084/..
?
7
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/..
?
8
Functional evaluation of novel variants of B4GALNT1 in a pa..:
Inamori, Kei-ichiro
;
Nakamura, Katsuya
;
Shishido, Fumi
...
Frontiers in Neuroscience. 18 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
9
A pathogenic missense variant, c.2149G>A (p.Gly717Arg), in ..:
Morooka, Naoki
;
Kido, Jun
;
Ueno, Hiroe
...
Brain and Development Case Reports. 2 (2024) 3 - p. 100023 , 2024
Link:
https://doi.org/10.1016/..
?
10
High-risk pathogenic germline variants in blood relatives o..:
Yoshida, Reiko
;
Kaneyasu, Tomoko
;
Ueki, Arisa
...
Breast Cancer. , 2024
Link:
https://doi.org/10.1007/..
?
11
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/..
?
12
A family with neuronal intranuclear inclusion disease with ..:
Watanabe, Kazuki
;
Bunai, Tomoyasu
;
Sakamoto, Masamune
...
Journal of Neurology. , 2024
Link:
https://doi.org/10.1007/..
?
13
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/..
?
14
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/..
?
15
Auditory Neuropathy Spectrum Disorder Progressing with Moto..:
Okumura, Gaku
;
Nakamura, Katsuya
;
Seyama, Rie
...
Internal Medicine. 63 (2024) 7 - p. 1005-1008 , 2024
Link:
https://doi.org/10.2169/..
1-15