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Molecular Genetics & Genomic Medicine|January 8, 2016
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9Yuko Katoh-Fukui, Maki Igarashi, Keisuke Nagasaki, et al.
Cytogenetic and Genome Research|June 4, 2019
DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number VariationsKenichiro Ogushi, Atsushi Hattori, Erina Suzuki, et al.
Human Molecular Genetics|February 8, 2022
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiencyRyuichi Nakagawa, Kei Takasawa, Maki Gau, et al.
Endocrine Connections|September 1, 2021
Female-dominant estrogen production in healthy children before adrenarcheMaki Igarashi, Tadayuki Ayabe, Kiwako Yamamoto-Hanada, et al.
Clinical Epigenetics|June 18, 2020
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patientsTakanobu Inoue, Akie Nakamura, Megumi Iwahashi-Odano, et al.
Endocrine Journal|August 4, 2017
Next generation sequencing-based mutation screening of 86 patients with idiopathic short statureAtsushi Hattori, Yuko Katoh-Fukui, Akie Nakamura, et al.
The Journal of Clinical Endocrinology and Metabolism|March 5, 2009
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patientsMaki Fukami, Gen Nishimura, Keiko Homma, et al.
Journal of Diabetes Investigation|November 27, 2016
Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetesMisako Okuno, Yoshihito Kasahara, Masafumi Onodera, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|August 24, 2017
Regional differences in infant 25-Hydroxyvitamin D: Pilot study of the Japan Environment and Children's StudyTadayuki Ayabe, Kiwako Yamamoto-Hanada, Hidetoshi Mezawa, et al.
Pediatric Diabetes|June 10, 2017
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetesKikumi Ushijima, Maki Fukami, Tadayuki Ayabe, et al.
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