Kimiko Ueda

5PUBLICATIONS
5CO-AUTHORS
Development cooperationCardiology (incl. cardiovascular diseases)Major global burdens of diseaseDevelopmental genetics (incl. sex determination)Neurology and neuromuscular diseases
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Publications (5)

|Oct 15, 2021
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.

Eriko Nishi, Toshiki Takenouchi, Fuyuki Miya

|May 29, 2021
Clinical spectrum of individuals with de novo EBF3 variants or deletions.

Eriko Nishi, Tomoko Uehara, Kumiko Yanagi

|May 27, 2021
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.

Kimiko Ueda, Satoru Ogawa, Keiko Matsuda

|Jun 27, 2017
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

Kimiko Ueda, Masako Yaoita, Tetsuya Niihori

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