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Human Molecular Genetics|April 18, 2023
Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpressionYuko Katoh-Fukui, Atsushi Hattori, Ruogu Zhang, et al.The Journal of Clinical Endocrinology and Metabolism|December 18, 2024
Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese PatientsTomoe Ogawa, Hiromune Narusawa, Keisuke Nagasaki, et al.Journal of the Endocrine Society|June 7, 2021
<i>SOX10</i> Mutation Screening for 117 Patients with Kallmann SyndromeHirohito Shima, Etsuro Tokuhiro, Shingo Okamoto, et al.Clinical Epigenetics|March 2, 2019
Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletionsKeiko Matsubara, Masatsune Itoh, Kenji Shimizu, et al.American Journal of Medical Genetics. Part A|September 30, 2016
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostosesAkira Ohishi, Gen Nishimura, Fumiko Kato, et al.Plos One|April 6, 2012
Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutationsNicolas Kalfa, Maki Fukami, Pascal Philibert, et al.Clinical Endocrinology|December 10, 2013
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patientsFumiko Kato, Takashi Hamajima, Tomonobu Hasegawa, et al.Human Reproduction (Oxford, England)|July 13, 2019
Endometrial preparation methods for frozen-thawed embryo transfer are associated with altered risks of hypertensive disorders of pregnancy, placenta accreta, and gestational diabetes mellitusKazuki Saito, Akira Kuwahara, Tomonori Ishikawa, et al.Journal of Assisted Reproduction and Genetics|January 22, 2017
Increased incidence of post-term delivery and Cesarean section after frozen-thawed embryo transfer during a hormone replacement cycleKazuki Saito, Kenji Miyado, Kenji Yamatoya, et al.Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 3, 2024
CHARGE syndrome in a child with a <i>CHD7</i> variant and a novel pathogenic <i>SOX2</i> variant: A case reportMiki Kamimura, Hirohito Shima, Erina Suzuki, et al.Pageof 32