Ehlers-Danlos Syndrome
Medicine & Life Sciences
100%
Mutation
Medicine & Life Sciences
67%
Type 1b Loeys-Dietz Syndrome
Medicine & Life Sciences
61%
Joint Instability
Medicine & Life Sciences
48%
Intellectual Disability
Medicine & Life Sciences
48%
cytokine-like factor-1
Medicine & Life Sciences
48%
Crisponi syndrome
Medicine & Life Sciences
48%
Contracture
Medicine & Life Sciences
46%
Yokoi, K. ,
Nakajima, Y. ,
Sudo, Y. ,
Mariya, T. ,
Kawamura, R. ,
Tsutsumi, M. ,
Inagaki, H. ,
Yoshikawa, T. ,
Ito, T. &
Kurahashi, H. ,
11-2022 ,
In: JIMD Reports. 63 ,
6 ,
p. 575-580 6 p. 研究成果: Article › 査読
Maple Syrup Urine Disease
100%
Branched-Chain Amino Acid
91%
Chain Reaction
62%
Disorder
54%
Mutation
54%
Kawamura, R. ,
Inagaki, H. ,
Yamada, M. ,
Suzuki, F. ,
Naru, Y. &
Kurahashi, H. ,
12-2021 ,
In: Molecular Cytogenetics. 14 ,
1 , 34.
研究成果: Article › 査読
Chromosomes, Human, Pair 22
100%
Turner Syndrome
94%
Mosaicism
92%
Microarrays
80%
Y Chromosome
60%
Kawamura, R. ,
Kato, T. ,
Miyai, S. ,
Suzuki, F. ,
Naru, Y. ,
Kato, M. ,
Tanaka, K. ,
Nagasaka, M. ,
Tsutsumi, M. ,
Inagaki, H. ,
Ioroi, T. ,
Yoshida, M. ,
Nao, T. ,
Conlin, L. K. ,
Iijima, K. ,
Kurahashi, H. &
Taniguchi-Ikeda, M. ,
01-08-2020 ,
In: Journal of Human Genetics. 65 ,
8 ,
p. 705-709 5 p. 研究成果: Article › 査読
Disorders of Sex Development
100%
Chimerism
93%
Mothers
47%
Alleles
41%
Microsatellite Repeats
39%
Tsutsumi, M. ,
Hattori, H. ,
Akita, N. ,
Maeda, N. ,
Kubota, T. ,
Horibe, K. ,
Fujita, N. ,
Kawai, M. ,
Shinkai, Y. ,
Kato, M. ,
Kato, T. ,
Kawamura, R. ,
Suzuki, F. &
Kurahashi, H. ,
05-12-2019 ,
In: BMC Medical Genomics. 12 ,
1 , 182.
研究成果: Article › 査読
Retinoblastoma
100%
Intellectual Disability
79%
X Chromosome Inactivation
44%
hydrogen sulfite
43%
Cytogenetic Analysis
39%
Yamaguchi, T. ,
Takano, K. ,
Inaba, Y. ,
Morikawa, M. ,
Motobayashi, M. ,
Kawamura, R. ,
Wakui, K. ,
Nishi, E. ,
Hirabayashi, S. I. ,
Fukushima, Y. ,
Kato, H. ,
Takahashi, J. &
Kosho, T. ,
06-2019 ,
In: American Journal of Medical Genetics, Part A. 179 ,
6 ,
p. 948-957 10 p. 研究成果: Article › 査読
Arthrogryposis
100%
Proprioception
86%
H-Reflex
47%
Abnormal Reflexes
43%
Frameshift Mutation
41%