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Publikováno v:
Development (09501991). Sep2024, Vol. 151 Issue 17, p1-2. 2p.
Autor:
Takeo Mukai, Shota Kato, Hiroyuki Tanaka, Yukiko Kuroda, Hiroki Kitaoka, Atsushi Ito, Yoshihiko Shitara, Kohei Kashima, Hirokazu Takami, Naoto Takahashi, Motohiro Kato
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)
Abstract Background Inherited glycosylphosphatidylinositol (GPI) deficiency is an autosomal recessive disease and a set of syndromes caused by different genes involved in the biosynthesis of phosphatidylinositol characterized by severe cognitive disa
Externí odkaz:
https://doaj.org/article/b4fc89e7c94848b6b7c7c4652802124f
Autor:
Yukiko Kuroda, Masaki Yoda, Katsuhiro Kawaai, Motoharu Tatenuma, Toshihide Mizoguchi, Shinichirou Ito, Masataka Kasahara, Yanlin Wu, Hidekazu Takano, Atsushi Momose, Koichi Matsuo
Publikováno v:
Development (09501991); Sep2024, Vol. 151 Issue 17, p1-12, 12p
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100246- (2023)
Externí odkaz:
https://doaj.org/article/aeccfee7180a4565b8dc8adf0fa1d4d5
Autor:
Yoko Saito, Yukiko Kuroda, Dai Keino, Yumi Enomoto, Takuya Naruto, Masakatsu Yanagimachi, Kenji Kurosawa
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100315- (2023)
Externí odkaz:
https://doaj.org/article/710f9884971e4a4f961b5f0909da8093
Autor:
Yoshikazu Kuboi, Yukiko Kuroda, Masayoshi Ohkuro, Sotaro Motoi, Yoshiya Tomimori, Hisataka Yasuda, Nobuyuki Yasuda, Toshio Imai, Koichi Matsuo
Publikováno v:
JBMR Plus, Vol 6, Iss 10, Pp n/a-n/a (2022)
ABSTRACT The chemokine fractalkine (FKN) is produced by various cell types, including osteoblasts and endothelial cells in bone tissue, and signals through a sole receptor, CX3CR1, which is expressed on monocytes/macrophages, including osteoclast pre
Externí odkaz:
https://doaj.org/article/d904024bfa4d45d180a9e9f6584da8eb
Publikováno v:
Clinical Dysmorphology; Apr2024, Vol. 33 Issue 2, p75-78, 4p
Autor:
Kenji Tanaka, Shuma Ohara, Tadaaki Matsuzaka, Aira Matsugaki, Takuya Ishimoto, Ryosuke Ozasa, Yukiko Kuroda, Koichi Matsuo, Takayoshi Nakano
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 14, p 11393 (2023)
The auditory brainstem response (ABR) is a scalp recording of potentials produced by sound stimulation, and is commonly used as an indicator of auditory function. However, the ABR threshold, which is the lowest audible sound pressure, cannot be objec
Externí odkaz:
https://doaj.org/article/60ecd0d7d2f64be0a9f89d6a7a1701ca
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return
Publikováno v:
American Journal of Medical Genetics Part A. 188:3130-3134
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d8bf30f42be6b9db3874a8cd3b9e0f
https://doi.org/10.1002/ajmg.a.62907
https://doi.org/10.1002/ajmg.a.62907