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Epigenetics|August 25, 2012
Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinationsMasayo Kagami, Kentaro Matsuoka, Toshiro Nagai, et al.Journal of Medical Genetics|September 23, 2018
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiologyTakanobu Inoue, Hideaki Yagasaki, Junko Nishioka, et al.Human Genome Variation|March 25, 2023
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN geneHazuki Morikawa, Sachiko Nishina, Kaoruko Torii, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|November 25, 2016
Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemiaMotohide Goto, Yukiyo Yamamoto, Masahiro Ishii, et al.Frontiers in Pediatrics|April 7, 2023
Comparison of physician- and self-assessed pubertal onset in Japanese childrenMayako Saito-Abe, Minaho Nishizato, Kiwako Yamamoto-Hanada, et al.Reproductive Medicine and Biology|February 27, 2023
Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndromeSatoshi Tamaoka, Kazuki Saito, Tomoko Yoshida, et al.Biology of Sex Differences|November 12, 2016
The p.R92W variant of <i>NR5A1/Nr5a1</i> induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced miceMami Miyado, Masafumi Inui, Maki Igarashi, et al.Journal of Human Genetics|May 25, 2021
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2Kaori Hara-Isono, Keiko Matsubara, Riku Hamada, et al.Journal of Human Genetics|September 10, 2020
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicismMuhammad Nazmul Haque, Masafumi Ohtsubo, Sachiko Nishina, et al.Nature Genetics|November 7, 2006
CXorf6 is a causative gene for hypospadiasMaki Fukami, Yuka Wada, Kanako Miyabayashi, et al.Pageof 32