Research Output 1990 2019

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Comment/debate
2019

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
2018

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
2016
Jacobsen Distal 11q Deletion Syndrome
Intellectual Disability
Thrombocytopenia
Thrombocytopenia Robin sequence