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Human Genome Variation|February 13, 2020
Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndromeNao Takizaki, Yoshinori Tsurusaki, Kaoru Katsumata, et al.
Molecular Ecology|July 2, 2020
Estimating fish population abundance by integrating quantitative data on environmental DNA and hydrodynamic modellingKeiichi Fukaya, Hiroaki Murakami, Seokjin Yoon, et al.
Epilepsy & Behavior Reports|December 28, 2019
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literatureAzusa Ikeda, Ayako Yamamoto, Kazushi Ichikawa, et al.
Circulation Reports|December 11, 2024
Impact of Nutritional Status and Cardiopulmonary Exercise Testing-Based Exercise Education on Long-Term Outcomes in Acute Coronary Syndrome - Insights From the Mie ACS RegistryHiroaki Murakami, Naoki Fujimoto, Keishi Moriwaki, et al.
Journal of Animal Science|June 19, 2018
Expression levels of brown/beige adipocyte-related genes in fat depots of vitamin A-restricted fattening cattle1Hsuan-Ju Chen, Tsubasa Ihara, Hidetugu Yoshioka, et al.
Congenital Anomalies|February 18, 2025
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU-related neurodevelopmental disorder associated with a novel nonsense variantYusuke Sasaki, Hiroaki Murakami, Yukiko Kuroda, et al.
Internal Medicine (Tokyo, Japan)|February 5, 2019
An Adult Case of Pulmonary Artery Sling Accompanied by TracheobronchomalaciaSahoko Imoto, Ryosuke Satomi, Mayuko Watase, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|May 26, 2022
Rothmund-Thomson syndrome investigated by two nationwide surveys in JapanHideo Kaneko, Minoru Takemoto, Hiroaki Murakami, et al.
European Journal of Human Genetics : EJHG|February 23, 2025
Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish modelYumi Enomoto, Takashi Shiromizu, Sakyo Yasojima, et al.
Clinical Genetics|December 27, 2021
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencingYumi Enomoto, Takayuki Yokoi, Yoshinori Tsurusaki, et al.
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