Showing results (71-80 of 110) with videos related to

Sort By:
Pageof 11
Journal of Human Genetics|May 23, 2022
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring systemTomoko Fuke, Akie Nakamura, Takanobu Inoue, et al.
Clinical Epigenetics|May 5, 2023
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametesKaori Hara-Isono, Keiko Matsubara, Akie Nakamura, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 1, 2020
Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short statureSayaka Kawashima, Hiroko Yagi, Yasuhiro Hirano, et al.
Surgical Case Reports|August 28, 2022
Infantile hepatic hemangioma and hepatic mesenchymal hamartoma in an infant associated with placental mesenchymal dysplasia: a case reportShunsuke Fujii, Kyoko Mochizuki, Hidehito Usui, et al.
Clinical Epigenetics|October 23, 2020
Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndromeKaori Hara-Isono, Keiko Matsubara, Tomoko Fuke, et al.
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.
Clinical Epigenetics|February 3, 2026
Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding siteHayate Masubuchi, Tatsuki Urakawa, Rika Kosaki, 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.
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.
Pageof 11