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Journal of Human Genetics|May 9, 2014
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalitiesJunichi Suzuki, Noriyuki Azuma, Sumito Dateki, et al.Plos Genetics|June 30, 2010
The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centersMasayo Kagami, Maureen J O'Sullivan, Andrew J Green, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patientsMasayo Kagami, Keisuke Nagasaki, Rika Kosaki, et al.Plos One|November 8, 2018
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiencyHirohito Shima, Mie Hayashi, Takashi Tachibana, et al.The Journal of Clinical Endocrinology and Metabolism|April 3, 2023
Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and HypospadiasYohei Masunaga, Yasuko Fujisawa, Francesco Massart, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 21, 2022
Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS LocusSayaka Kawashima, Akiko Yuno, Shinichiro Sano, et al.The Journal of Clinical Endocrinology and Metabolism|June 3, 2016
Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1bAkie Nakamura, Erika Hamaguchi, Reiko Horikawa, et al.Human Mutation|March 24, 2018
STX2 is a causative gene for nonobstructive azoospermiaShigeru Nakamura, Yoshitomo Kobori, Yoshihiko Ueda, et al.Scientific Reports|July 5, 2020
Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiencyKenichi Kinjo, Keisuke Nagasaki, Koji Muroya, et al.Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|July 21, 2021
Two girls with a neonatal screening-negative 21-hydroxylase deficiency requiring treatment with hydrocortisone for virilization in late childhoodShinsuke Onuma, Tomoya Fukuoka, Yoko Miyoshi, et al.Pageof 32