1 - 20 of about 49
Effects of Muse Cell on a Mouse Model With Acute Encephalopathy , Kawaguchi T, Mori T, Adachi K, Fujii J, Maegaki Y, Obata F , Brain Behav , vol.15 (1) (p.e70242 - ) , 2025.01 , There is Review , The Multiple Authorship , English
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing , Hijikata A, Suyama M, Kikugawa S, Matoba R, Naruto T, Enomoto Y, Kurosawa K, Harada N, Yanagi K, Kaname T, Miyako K, Takazawa M, Sasai H, Hosokawa J, Itoga S, Yamaguchi T, Kosho T, Matsubara K, Kuroki Y, Fukami M, Adachi K, Nanba E, Tsuchida N, Uchiyama Y, Matsumoto N, Nishimura K, Ohara O , Nucleic Acids Res , vol.52 (1) (p.114 - 124) , 2024.01 , There is Review , The Multiple Authorship , English
Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant , Kawaguchi T, Okanishi T, Okazaki T, Aoki C, Kasagi N, Adachi K, Yoshida Y, Miyake N, Matsumoto N, Maegaki Y , Yonago Acta Med , vol.66 (4) (p.463 - 466) , 2023.10 , There is Review , The Multiple Authorship , English
Association of IL-4 with pachychoroid neovasculopathy , Baba T, Koyama A, Uotani R, Miyake H, Inata K, Sasaki SI, Shimizu Y, Inoue Y, Adachi K, Nanba E, Miyazaki D , Sci Rep , vol.13 (1) (p.1152 - ) , 2023.01 , There is Review , The Multiple Authorship , English
Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion , Okazaki T, Kawaguchi T, Saiki Y, Aoki C, Kasagi N, Adachi K, Saida K, Matsumoto N, Nanba E, Maegaki Y , Hum Genome Var , vol.9 (1) (p.14) , 2022.05 , There is Review , The Multiple Authorship , English
Online questionnaire on genetic testing for intractable diseases in Japan: response to and issues associated with the revised medical care act , Adachi K, Satou K, Nanba E , J Hum Genet , vol.66 (11) (p.1043 - 1051) , 2021.11 , There is Review , The Multiple Authorship , English
Reply to the letter: "A case of infantile Tay-Sachs disease with late onset spasms" , Yamamoto N, Kuki I, Nagase S, Inoue T, Nukui M, Okazaki S, Furuichi Y, Adachi K, Nanba E, Sakai N, Kawawaki H , Brain Dev , vol.43 (9) (p.977 - 978) , 2021.10 , There is Review , The Multiple Authorship , English
Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant , Okazaki T, Yamada H, Matsuura K, Kasagi N, Miyake N, Matsumoto N, Adachi K, Nanba E, Maegaki Y , Hum Genome Var , vol.8 (1) (p.26) , 2021.07 , There is Review , The Multiple Authorship , English
A case of infantile Tay-Sachs disease with late onset spasms , Yamamoto N, Kuki I, Nagase S, Inoue T, Nukui M, Okazaki S, Furuichi Y, Adachi K, Nanba E, Sakai N, Kawawaki H , Brain Dev , vol.43 (5) (p.661 - 665) , 2021.05 , There is Review , The Multiple Authorship , English
Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome , Miyata H, Fushimi S, Ota Y, Vinters HV, Adachi K, Nanba E, Akiyama T , Neuropathology , vol.41 (1) (p.58 - 64) , 2021.02 , There is Review , The Multiple Authorship , English
Cord Blood from SGA Preterm Infants Exhibits Increased GLUT4 mRNA Expression , Narai S, Kawashima-Sonoyama Y, Fujimoto M, Miura M, Adachi K, Nanba E, Namba N , Yonago Acta Med , vol.64 (1) (p.57 - 66) , 2021.01 , There is Review , The Multiple Authorship , English
Establishment of FXS-A9 panel with a single human X chromosome from fragile X syndrome-associated individual , Nakayama Y, Adachi K, Shioda N, Maeta S, Nanba E, Kugoh H , Exp Cell Res , vol.398 (2) (p.112419 - ) , 2021.01 , There is Review , The Multiple Authorship , English
CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome , Asamitsu S, Yabuki Y, Ikenoshita S, Kawakubo K, Kawasaki M, Usuki S, Nakayama Y, Adachi K, Kugoh H, Ishii K, Matsuura T, Nanba E, Sugiyama H, Fukunaga K, Shioda N , Sci Adv , vol.7 (3) (p.eabd9440 - ) , 2021.01 , There is Review , The Multiple Authorship , English
Clinical Characteristics of Fragile X Syndrome Patients in Japan , Okazaki T, Adachi K, Matsuura K, Oyama Y, Nose M, Shirahata E, Abe T, Hasegawa T, Maihara T, Maegaki Y, Nanba E , Yonago Acta Med , vol.64 (1) (p.30 - 33) , 2021.01 , There is Review , The Multiple Authorship , English
Gallbladder cancer with ascites in a child with metachromatic leukodystrophy , Koshu K, Ikeda T, Tamura D, Muramatsu K, Osaka H, Ono S, Adachi K, Nanba E, Nakajima T, Yamagata T , Brain Dev , vol.43 (1) (p.140 - 143) , 2021.01 , There is Review , The Multiple Authorship , English
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support , Uchino A, Nagai M, Kanazawa N, Ichinoe M, Yanagisawa N, Adachi K, Nanba E, Ishiura H, Mitsui J, Tsuji S, Suzuki K, Murayama S, Nishiyama K , Neuropathology , vol.40 (4) (p.379 - 388) , 2020.08 , There is Review , The Multiple Authorship , English
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants , Okazaki T, Matsuura K, Kasagi N, Adachi K, Kai M, Okubo M, Nishino I, Nanba E, Maegaki Y , Hum Genome Var , vol.7 (p.12 - ) , 2020.04 , There is Review , The Multiple Authorship , English
Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders , Ebiki M, Okazaki T, Kai M, Adachi K, Nanba E , Yonago Acta Med , vol.62 (3) (p.244 - 252) , 2019.09 , There is Review , The Multiple Authorship , English
A new heterozygous compound mutation in the CTSA gene in galactosialidosis , Nakajima H, Ueno M, Adachi K, Nanba E, Narita A, Tsukimoto J, Itoh K, Kawakami A , Hum Genome Var , vol.6 (p.22) , 2019.04 , There is Review , The Multiple Authorship , English
Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation , Okazaki T, Saito Y, Sugita K, Nosaka K, Ohno K, Hiraoka Y, Kasagi N, Ebiki M, Narai S, Kawashima Y, Takano S, Kai M, Adachi K, Yamamoto O, Nanba E, Maegaki Y , Yonago Acta Med , vol.62 (1) (p.159 - 162) , 2019.03 , There is Review , The Multiple Authorship , English