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The Journal of Clinical Endocrinology and Metabolism|December 8, 2004
Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1Tomonobu Hasegawa, Maki Fukami, Naoko Sato, et al.
Endocrinology|October 23, 2012
Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive developmentMami Miyado, Michiko Nakamura, Kenji Miyado, et al.
Thyroid : Official Journal of the American Thyroid Association|May 17, 2024
Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple <i>DUOX2</i> VariantsErika Uehara, Kiyomi Abe, Kanako Tanase-Nakao, et al.
Endocrinology|November 25, 2022
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to DwarfismKazuhisa Akiba, Yukihiro Hasegawa, Yuko Katoh-Fukui, et al.
Cytogenetic and Genome Research|October 23, 2019
Frequency of Common Copy-Number Variations at 15q11.2q13 in Sperm of Healthy MenTakahiro Kinoshita, Masashi Mikami, Tadayuki Ayabe, et al.
Hormone Research in Paediatrics|August 1, 2015
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris HypopigmentationErina Suzuki, Yoko Izumi, Yuta Chiba, et al.
Journal of Human Genetics|January 9, 2022
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctataTakuya Hiraide, Yohei Masunaga, Akira Honda, et al.
Human Genome Variation|September 13, 2022
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndromeAtsushi Hattori, Torayuki Okuyama, Tetsumin So, et al.
Endocrine Journal|July 18, 2018
11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndromeTomoko Yoshida, Toshiya Matsuzaki, Mami Miyado, et al.
Endocrine Journal|May 1, 2004
Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogensMaki Fukami, Yoshikazu Nishi, Yukihiro Hasegawa, et al.
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