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Brain & Development|May 29, 2012
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutationAkihisa Okumura, Masaharu Hayashi, Hiromichi Tsurui, et al.American Journal of Medical Genetics. Part A|October 21, 2009
Brainstem disconnection associated with nodular heterotopia and proatlantal arteriesAkihisa Okumura, Tsubasa Lee, Keiko Shimojima, et al.European Journal of Medical Genetics|November 7, 2016
Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosisKeiko Shimojima, Yumiko Ondo, Mayumi Matsufuji, et al.Human Genome Variation|January 13, 2022
Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosisKeiko Shimojima Yamamoto, Taiju Utshigisawa, Hiromi Ogura, et al.American Journal of Medical Genetics. Part A|March 12, 2025
Unique DUP-TRP/INV-DUP Structure Detected by Long-Read SequencingRina Shimomura, Keiko Shimojima Yamamoto, Mutsuki Nakano, et al.Human Genome Variation|November 30, 2021
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizuresKeiko Shimojima Yamamoto, Tomoe Yanagishita, Hisako Yamamoto, et al.Gene|July 10, 2012
A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial featuresKazushi Miya, Keiko Shimojima, Midori Sugawara, et al.Human Genome Variation|October 30, 2016
Loss-of-function mutations and global rearrangements in <i>GPC3</i> in patients with Simpson-Golabi-Behmel syndromeKeiko Shimojima, Yumiko Ondo, Eriko Nishi, et al.Journal of Medical Genetics|November 2, 2010
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndromeIsabel Filges, Keiko Shimojima, Nobuhiko Okamoto, et al.Journal of Human Genetics|June 26, 2015
Novel compound heterozygous LIAS mutations cause glycine encephalopathyYoshinori Tsurusaki, Ryuta Tanaka, Shino Shimada, et al.Pageof 15