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American Journal of Medical Genetics. Part A|January 25, 2005
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndromeLouise Chuang, Keiko Wakui, Whey-Chen Sue, 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.Journal of Human Genetics|October 12, 2002
Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expressionKeiko Wakui, Atsushi Toyoda, Takeo Kubota, et al.American Journal of Medical Genetics. Part A|December 6, 2011
Myelodysplastic syndrome in a child with 15q24 deletion syndromeYoko Narumi, Masaaki Shiohara, Keiko Wakui, et al.Journal of Human Genetics|May 3, 2013
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in JapanKeiko Tanaka, Yoshiki Sekijima, Kunihiro Yoshida, et al.Human Genome Variation|October 31, 2017
A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8Tsuneaki Yoshinaga, Katsuya Nakamura, Masumi Ishikawa, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510HisYasushi Wakabayashi, Kyohei Yamazaki, Yoko Narumi, et al.Molecular Genetics and Metabolism|September 6, 2005
Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formationDobrawa Napierala, Xavier Garcia-Rojas, Kathy Sam, et al.American Journal of Medical Genetics. Part A|October 18, 2008
Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36Shoji Saito, Rie Kawamura, Tomoki Kosho, et al.American Journal of Medical Genetics. Part A|March 26, 2014
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literatureYoko Narumi, Sachiko Nishina, Motoharu Tokimitsu, et al.Pageof 7