Nishi Eriko - Department of Medical Genetics, Osaka Women’s and Children’s Hospital

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论文共 41 篇作者统计合作学者相似作者

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Unique DUP-TRP/INV-DUP Structure Detected by Long-Read Sequencing

Rina Shimomura,Keiko Shimojima Yamamoto, Mutsuki Nakano,Takahiro Tayama,Tatsuo Mori,Eriko Nishi,Ken Inoue,Satoru Nagata,Nobuhiko Okamoto,Toshiyuki Yamamoto

American journal of medical genetics Part App.e64044-e64044, (2025)

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Genetic Backgrounds and Genotype-Phenotype Relationships in Anthropometric Parameters of 116 Japanese Individuals with Noonan Syndrome

Yasuko Shoji, Ayaha Hata,Takatoshi Maeyama,Tamaki Wada,Yuiko Hasegawa,Eriko Nishi,Shinobu Ida,Yuri Etani,Tetsuya Niihori,Yoko Aoki,Nobuhiko Okamoto,Masanobu Kawai

Clinical Pediatric Endocrinology（2024）

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Craniosynostosis in Individuals with Kabuki Syndrome

Eriko Nishi,Noriko Miyake,Kana Hosoki,Yuiko Hasegawa,Naomichi Matsumoto,Nobuhiko Okamoto

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 227-227

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Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years

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

Genesno. 3 (2024): 314-314

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Craniosynostosis in Molecularly Diagnosed Kabuki Syndrome: Prevalence and Clinical Implications

Eriko Nishi,Noriko Miyake,Rie Kawamura,Kana Hosoki,Yuiko Hasegawa,Naomichi Matsumoto,Nobuhiko Okamoto

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 2 (2024): 268-278

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Haploinsufficiency of NKX2-1 is Likely to Contribute to Developmental Delay Involving 14q13 Microdeletions

Osamu Machida,Haruko Sakamoto,Keiko Shimojima Yamamoto,Yuiko Hasegawa, Satoi Nii, Hidenori Okada, Kazuki Nishikawa,Shin-Ichi Sumimoto,Eriko Nishi,Nobuhiko Okamoto,Toshiyuki Yamamoto

Intractable & Rare Diseases Researchno. 1 (2024): 36-41

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Neurogenetic Syndromes with Cerebellar Abnormalities Revealed by Whole-Exome Sequencing

Nobuhiko Okamoto,Eriko Nishi,Yuiko Hasegawa,Kumiko Yanagi,Tadashi Kaname,Fuyuki Miya,Kenjiro Kosaki

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 480-481

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Clinical Features of a Japanese Girl with Radio-Tartaglia Syndrome Due to a SPEN Truncating Variant

Eriko Nishi,Kumiko Yanagi,Nobuhiko Okamoto,Tadashi Kaname

American journal of medical genetics Part Ano. 3 (2024): e63910-e63910

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Clinical Details of Individuals with Rauch–Steindl Syndrome Due to NSD2 Truncating Variants

Eriko Nishi,Kumiko Yanagi,Tadashi Kaname,Nobuhiko Okamoto

Molecular Genetics & Genomic Medicineno. 2 (2024)

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Identification of Small-Sized Intrachromosomal Segments at the Ends of INV–DUP–DEL Patterns

Keiko Shimojima Yamamoto,Takeaki Tamura,Nobuhiko Okamoto,Eriko Nishi,Atsuko Noguchi,Ikuko Takahashi,Yukio Sawaishi,Masaki Shimizu,Hitoshi Kanno,Yohei Minakuchi,Atsushi Toyoda,Toshiyuki Yamamoto

JOURNAL OF HUMAN GENETICS（2023）

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