Whole genome sequencing of 45 Japanese patients with intellectual disability

Autor: Hiroya Nishida, Mitsuhiro Kato, Yukihide Momozawa, Yu-ichi Goto, Michiaki Kubo, Sayaka Ohta, Aritoshi Iida, Kan Takahashi, Jun Natsume, Kazuyuki Nakamura, Ken Inoue, Chikashi Terao, Naomichi Matsumoto, Yoichiro Kamatani, Kyoko Hoshino, Yasuo Hachiya, Eiji Nakagawa, Rie Miyata, Shunichi Kosugi, Eri Takeshita, Akihiko Ishiyama, Yoshiyuki Takahashi, Chihiro Abe-Hatano, Masayuki Sasaki, Haruko Sakamoto, Keiko Ishikawa, Mariko Okubo, Chie Murakami, Masaya Kubota

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2021, 185 (5), pp.1468-1480. ⟨10.1002/ajmg.a.62138⟩
American Journal of Medical Genetics. Part a

Intellectual disability (ID) is characterized by significant limitations in both intellectual functioning and adaptive behaviors, originating before the age of 18 years. However, the genetic etiologies of ID are still incompletely elucidated due to t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cff5fca248e02ff7020eb6a509eee5a6
https://hal.science/hal-03842199

Diagnosis of DIC in Very Low Birth Weight Infants

Autor: Akira Shirahata, Chie Murakami, Yoshitsugu Shirakawa

Publikováno v: Seminars in Thrombosis and Hemostasis. 24:467-471

Disseminated intravascular coagulation (DIC) occurs most frequently during the neonatal period. We have already established criteria for the early diagnosis of DIC in newborn infants, based on the analysis of clinical and laboratory findings in neona

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e610556c5075db6b6c7e090ffdb0c3d9
https://doi.org/10.1055/s-2007-996041

Drainage of the tracheal blind pouch created by laryngotracheal separation

Autor: Masayuki Shimono, Nobuaki Hiraki, Hideaki Suzuki, Koichi Hashida, Seiko Suzuki, Akiko Takada, Toyoaki Ohbuchi, Minori Shibata, Chie Murakami

Publikováno v: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery. 266(8)

Laryngotracheal separation is a simple and reliable operation for the treatment of patients with repetitive and intractable aspiration; however, it is apprehended that pooling in the tracheal blind pouch may cause postoperative complications. In the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f77236eaa9d0ee947dff233cce5df66
https://pubmed.ncbi.nlm.nih.gov/19283402