Mutation
Medicine & Life Sciences
100%
Genes
Medicine & Life Sciences
54%
Phenotype
Medicine & Life Sciences
49%
Intellectual Disability
Medicine & Life Sciences
41%
CHARGE Syndrome
Medicine & Life Sciences
32%
Exome
Medicine & Life Sciences
24%
Exons
Medicine & Life Sciences
20%
Whole Exome Sequencing
Medicine & Life Sciences
18%
Yoshida, Y. ,
Uchida, K. ,
Kodo, K. ,
Ishizaki-Asami, R. ,
Maeda, J. ,
Katsumata, Y. ,
Yuasa, S. ,
Fukuda, K. ,
Kosaki, K. ,
Watanabe, Y. ,
Nakagawa, O. &
Yamagishi, H. ,
2023 ,
In: Frontiers in Cardiovascular Medicine. 10 , 1135141.
研究成果: Article › 査読
Heart Diseases
100%
Heart
80%
High-Throughput Nucleotide Sequencing
71%
Genes
49%
Computer Simulation
46%
Kuroda, Y. ,
Kumaki, T. ,
Saito, Y. ,
Enomoto, Y. ,
Suzuki, H. ,
Takenouchi, T. ,
Kosaki, K. &
Kurosawa, K. ,
2023 3月 ,
In: American Journal of Medical Genetics, Part A. 191 ,
3 ,
p. 893-895 3 p. 研究成果: Letter › 査読
Yogi, A. ,
Iemura, R. ,
Nakatani, H. ,
Takasawa, K. ,
Gau, M. ,
Yamauchi, T. ,
Yoshida, M. ,
Moriyama, K. ,
Ishii, T. ,
Hosokawa, S. ,
Yamada, M. ,
Suzuki, H. ,
Kosaki, K. ,
Kashimada, K. &
Morio, T. ,
2023 9月 ,
In: European Journal of Medical Genetics. 66 ,
9 , 104820.
研究成果: Article › 査読
Dextrocardia
100%
Bone and Bones
38%
Haploinsufficiency
35%
Genes
26%
Proteins
24%
Yamada, M. ,
Tanito, K. ,
Suzuki, H. ,
Nakato, D. ,
Miya, F. ,
Takenouchi, T. &
Kosaki, K. ,
2023 , (Accepted/In press)
In: Cleft Palate-Craniofacial Journal. 研究成果: Article › 査読
Cleft Palate
100%
Nanopores
35%
Chromosome Deletion
29%
Genetic Counseling
24%
Intellectual Disability
21%
Yamada, M. ,
Okuno, H. ,
Okamoto, N. ,
Suzuki, H. ,
Miya, F. ,
Takenouchi, T. &
Kosaki, K. ,
2023 2月 ,
In: European Journal of Medical Genetics. 66 ,
2 , 104690.
研究成果: Article › 査読
Nanopores
100%
Angelman Syndrome
95%
Prader-Willi Syndrome
88%
Alleles
47%
Methylation
39%