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Cell Metabolism|August 3, 2017
mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy ProgressionNahid A Khan, Joni Nikkanen, Shuichi Yatsuga, et al.
The Journal of Clinical Endocrinology and Metabolism|August 26, 2020
Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function StudiesMegumi Iwahashi-Odano, Keisuke Nagasaki, Maki Fukami, et al.
Hormone Research in Paediatrics|November 28, 2013
De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiencyErina Suzuki, Shuichi Yatsuga, Maki Igarashi, et al.
Annals of Neurology|October 15, 2015
Growth differentiation factor 15 as a useful biomarker for mitochondrial disordersShuichi Yatsuga, Yasunori Fujita, Akiko Ishii, et al.
Human Genome Variation|March 14, 2018
An unclassified variant of <i>CHD7</i> activates a cryptic splice site in a patient with CHARGE syndromeYuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, et al.
HGG Advances|October 27, 2022
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delayCameron Young, Dominyka Batkovskyte, Miyuki Kitamura, et al.
Mitochondrion|September 11, 2021
Temporal changes and control variables of growth differentiation factor 15 levels during the first week of life in hospitalised newborn infantsMasahiro Kinoshita, Shuichi Yatsuga, Osuke Iwata, et al.
Endocrine Journal|April 24, 2020
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in JapanShuichi Yatsuga, Naoko Amano, Akari Nakamura-Utsunomiya, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 5, 2022
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)Tomohiro Ishii, Kenichi Kashimada, Naoko Amano, et al.
Fertility and Sterility|July 28, 2014
Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadismYoko Izumi, Erina Suzuki, Susumu Kanzaki, et al.
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