Research Output 1990 2019

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Comment/debate
Comment/debate

Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate (Journal of Human Genetics, (2017), 62, 9, (861-863), 10.1038/jhg.2017.53)

Kato, K., Miya, F., Hori, I., Ieda, D., Ohashi, K., Negishi, Y., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & Saitoh, S., 2019 Jan 1, In : Journal of Human Genetics.

Research output: Contribution to journalComment/debate

Open Access
Periventricular Nodular Heterotopia
Medical Genetics
Cleft Palate
Missense Mutation
Mutation
Jacobsen Distal 11q Deletion Syndrome
Intellectual Disability
Thrombocytopenia
Thrombocytopenia Robin sequence

Large number of cutaneous neurofibromas beyond age-appropriate incidence in a patient with a large deletion of NF1

Yoshida, Y., Ehara, Y., Kosaki, K. & Yamamoto, O., 2018 Mar 1, In : Journal of Dermatology. 45, 3, p. 363-364 2 p.

Research output: Contribution to journalComment/debate

Neurofibroma
Skin
Incidence

Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis (Scientific Reports (2018) DOI: 10.1038/s41598-018-23978-z)

Shigemizu, D., Miya, F., Akiyama, S., Okuda, S., Boroevich, K. A., Fujimoto, A., Nakagawa, H., Ozaki, K., Niida, S., Kanemura, Y., Okamoto, N., Saitoh, S., Kato, M., Yamasaki, M., Matsunaga, T., Mutai, H., Kosaki, K. & Tsunoda, T., 2018 Dec 1, In : Scientific Reports. 8, 1, 10367.

Research output: Contribution to journalComment/debate

Nucleic Acid Repetitive Sequences