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American Journal of Medical Genetics. Part A|May 25, 2013
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patientsShino Shimada, Nobuhiko Okamoto, Kyoko Hirasawa, et al.Journal of Human Genetics|January 30, 2010
A functional analysis of GABARAP on 17p13.1 by knockdown zebrafishYuta Komoike, Keiko Shimojima, Jao-Shwann Liang, et al.Human Genome Variation|September 1, 2016
Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approachToshiyuki Yamamoto, Keiko Shimojima, Yumiko Ondo, et al.American Journal of Medical Genetics. Part A|March 14, 2023
Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2CTakeaki Tamura, Keiko Shimojima Yamamoto, Taichi Imaizumi, et al.The American Journal of Case Reports|April 13, 2023
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-UpSatoshi Ekuni, Kei Hirayama, Miwako Nagasaka, et al.Journal of Human Genetics|September 24, 2025
Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencingHironao Shirai, Keiko Shimojima Yamamoto, Hirokazu Arai, et al.American Journal of Medical Genetics. Part A|March 7, 2013
Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behaviorDaisuke Usui, Shino Shimada, Keiko Shimojima, et al.Brain & Development|June 18, 2013
Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikesHiroyuki Torisu, Kyoko Watanabe, Keiko Shimojima, et al.European Journal of Medical Genetics|March 12, 2010
Phenotypic overlapping of trisomy 12p and Pallister-Killian syndromeEisuke Inage, Mitsuyoshi Suzuki, Kei Minowa, et al.Brain & Development|December 3, 2014
Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34Masakazu Mimaki, Takashi Shiihara, Mio Watanabe, et al.Pageof 15