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American Journal of Medical Genetics. Part A|August 29, 2018
Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatmentEriko Nishi, Mizue Takasugi, Rie Kawamura, et al.American Journal of Medical Genetics. Part A|November 27, 2014
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentiginesEriko Nishi, Seiji Mizuno, Yuka Nanjo, et al.European Journal of Medical Genetics|July 17, 2017
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegenerationKyoko Takano, Kazuya Goto, Mitsuo Motobayashi, et al.Brain & Development|December 8, 2021
Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorderHitomi Nishizawa, Mitsuo Motobayashi, Miwa Akahane, et al.American Journal of Medical Genetics. Part A|October 21, 2015
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literatureKyoko Takano, Naoko Shiba, Keiko Wakui, et al.The Journal of Dermatology|February 1, 2021
Endoplasmic reticulum stress and collagenous formation anomalies in vascular-type Ehlers-Danlos syndrome via electron microscopySatoko Ishikawa, Tomoki Kosho, Tomoko Kaminaga, et al.Gynecologic Oncology Reports|January 27, 2025
Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case reportYuta Shioya, Hirofumi Ando, Tsutomu Miyamoto, et al.Journal of Human Genetics|November 28, 2014
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1CShinichi Nakashima, Fumiko Kato, Tomoki Kosho, et al.Respiratory Medicine Case Reports|May 30, 2023
A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variantKouko Hidaka, Tetsuichiro Inai, Tomoki Kosho, et al.Genes|May 27, 2023
Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)Tomoko Kobayashi, Fumiyoshi Fujishima, Kazuaki Tokodai, et al.Pageof 17