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Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|October 29, 2025
Maternal Microchimerism Is Uncommon in Patients with HypospadiasYuki Muranishi, Yuko Katoh-Fukui, Masafumi Kon, et al.Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|July 12, 2024
<i>PTPN11</i> and <i>FLNA</i> variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic featuresYuki Muranishi, Tomoyo Itonaga, Kenji Ihara, et al.Human Genome Variation|April 6, 2026
Clinical features of syndromic microphthalmia in two novel RARB variantsYoshito Koyanagi, Hazuki Morikawa-Anzai, Tomoyo Yoshida, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|January 25, 2020
Reference values for salivary cortisol in healthy young infants by liquid chromatography-tandem mass spectrometryMayako Saito-Abe, Kiwako Yamamoto-Hanada, Shoji F Nakayama, et al.Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|March 30, 2016
Copy Number Variations of the Azoospermia Factor Region and SRY Are Not Associated with the Risk of HypospadiasMasafumi Kon, Kazuki Saito, Takahiko Mitsui, et al.Frontiers in Endocrinology|December 5, 2024
Long term effects of aromatase inhibitor treatment in patients with aromatase excess syndromeEleni Z Giannopoulou, Stephanie Brandt, Stefanie Zorn, et al.Cytogenetic and Genome Research|March 3, 2017
Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion SyndromeKoki Nagai, Hirohito Shima, Miki Kamimura, et al.Scientific Reports|February 4, 2018
Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR geneHiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa, et al.The Journal of Clinical Endocrinology and Metabolism|April 13, 2006
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosteroneKeiko Homma, Tomonobu Hasegawa, Toshiro Nagai, et al.Clinical Epigenetics|April 8, 2021
Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomniaYohei Masunaga, Masayo Kagami, Fumiko Kato, et al.Pageof 32