Eriko Nishi

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 12

Top Topics

Intellectual Disability

Top Venues

Molecular genetics & genomic medicine

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants. Molecular genetics & genomic medicine 12 (2) (2024)
Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants. Molecular genetics & genomic medicine 12 (2) (2024)
Tomokazu Kimizu, Masatoshi Nozaki, Yousuke Okada, Akihisa Sawada, Misaki Morisaki, Hiroshi Fujita, Akemi Irie, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Masanobu Kawai, Kohsuke Imai, Yasuhiro Suzuki, Kazuko Wada, Nobuaki Mitsuda, Shinobu Ida
Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years. Genes 15 (3) (2024)
Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants. Molecular genetics & genomic medicine 12 (2) (2024)
Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants. Molecular genetics & genomic medicine 12 (2) (2024)
Tomokazu Kimizu, Masatoshi Nozaki, Yousuke Okada, Akihisa Sawada, Misaki Morisaki, Hiroshi Fujita, Akemi Irie, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Masanobu Kawai, Kohsuke Imai, Yasuhiro Suzuki, Kazuko Wada, Nobuaki Mitsuda, Shinobu Ida
Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years. Genes 15 (3) (2024)
Tomokazu Kimizu, Masatoshi Nozaki, Yousuke Okada, Akihisa Sawada, Misaki Morisaki, Hiroshi Fujita, Akemi Irie, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Masanobu Kawai, Kohsuke Imai, Yasuhiro Suzuki, Kazuko Wada, Nobuaki Mitsuda, Shinobu Ida
Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years. Genes 15 (3) (2024)
Tomokazu Kimizu, Masatoshi Nozaki, Yousuke Okada, Akihisa Sawada, Misaki Morisaki, Hiroshi Fujita, Akemi Irie, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Masanobu Kawai, Kohsuke Imai, Yasuhiro Suzuki, Kazuko Wada, Nobuaki Mitsuda, Shinobu Ida
Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years. Genes 15 (3) (2024)
Eriko Nishi, Noriko Miyake, Rie Kawamura, Kana Hosoki, Yuiko Hasegawa, Naomichi Matsumoto, Nobuhiko Okamoto
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications. American journal of medical genetics. Part A (2023)
Kimiko Ueda, Satoru Ogawa, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Toshiyuki Yamamoto, Nobuhiko Okamoto
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15. American journal of medical genetics. Part A 185 (10) (2021)
Eriko Nishi, Tomoko Uehara, Kumiko Yanagi, Yuiko Hasegawa, Kimiko Ueda, Tadashi Kaname, Toshiyuki Yamamoto, Kenjiro Kosaki, Nobuhiko Okamoto
Clinical spectrum of individuals with de novo EBF3 variants or deletions. American journal of medical genetics. Part A 185 (10) (2021)
Eriko Nishi, Toshiki Takenouchi, Fuyuki Miya, Tomoko Uehara, Kumiko Yanagi, Yuiko Hasegawa, Kimiko Ueda, Seiji Mizuno, Tadashi Kaname, Kenjiro Kosaki, Nobuhiko Okamoto
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome. American journal of medical genetics. Part A (2021)