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Intractable & Rare Diseases Research|September 17, 2019
Advantages of ddPCR in detection of <i>PLP1</i> duplicationsTaichi Imaizumi, Keiko Yamamoto-Shimojima, Toshiyuki YamamotoHuman Genome Variation|June 9, 2020
Novel <i>LAMA2</i> variants identified in a patient with white matter abnormalitiesKeiko Yamamoto-Shimojima, Hiroaki Ono, Taichi Imaizumi, et al.Methods in Molecular Biology (Clifton, N.J.)|April 17, 2024
Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent DesignTakeaki Tamura, Taichi Imaizumi, Keiko Shimojima Yamamoto, et al.Congenital Anomalies|January 27, 2019
Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reactionTaichi Imaizumi, Keiko Yamamoto-Shimojima, Hitoshi Yamamoto, et al.American Journal of Medical Genetics. Part A|December 11, 2019
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutationKeiko Yamamoto-Shimojima, Taichi Imaizumi, Hiroyuki Akagawa, et al.Human Genome Variation|August 16, 2024
Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXXKeiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, et al.Journal of Human Genetics|May 2, 2020
Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencingTaichi Imaizumi, Keiko Yamamoto-Shimojima, Tomoe Yanagishita, et al.Intractable & Rare Diseases Research|December 19, 2018
Identification of a rare homozygous <i>SZT2</i> variant due to uniparental disomy in a patient with a neurodevelopmental disorderTaichi Imaizumi, Akira Kumakura, Keiko Yamamoto-Shimojima, et al.Human Genome Variation|February 17, 2021
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 geneKei Wakabayashi, Hitoshi Osaka, Karin Kojima, et al.Human Genetics|June 15, 2020
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndromeTaichi Imaizumi, Keiko Yamamoto-Shimojima, Tomoe Yanagishita, et al.Pageof 2