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Human Genome Variation|August 10, 2017
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detectionAsami Okada, Tomohiro Kohmoto, Takuya Naruto, et al.American Journal of Medical Genetics. Part A|January 18, 2018
A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutationNarumi Tokaji, Hiromichi Ito, Tomohiro Kohmoto, et al.Human Genome Variation|July 23, 2020
Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndromeKeita Osumi, Kenichi Suga, Akemi Ono, et al.Clinical and Experimental Nephrology|March 2, 2011
A case of a 6-year-old girl with anti-neutrophil cytoplasmic autoantibody-negative pauci-immune crescentic glomerulonephritisMaki Shimizu, Takanori Sekiguchi, Natsuko Kishi, et al.The Journal of Medical Investigation : JMI|November 5, 2020
Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilitiesKenichi Suga, Issei Imoto, Hiromichi Ito, et al.Brain & Development|June 8, 2020
Survey of patients with spinal muscular atrophy on the island of Shikoku, JapanKentaro Okamoto, Takahiro Motoki, Isao Saito, et al.Pageof 3