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Keiko Shimojima

Showing results (11-20 of 142) with videos related to

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American Journal of Medical Genetics. Part A|January 8, 2016
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasiaKeiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Human Genome Variation|August 7, 2023
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive featuresKeiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto
Pediatrics and Neonatology|January 27, 2009
Application of array-based comparative genome hybridization in children with developmental delay or mental retardationJao-Shwann Liang, Keiko Shimojima, Toshiyuki Yamamoto
American Journal of Medical Genetics. Part A|February 12, 2016
Tatton-Brown-Rahman syndrome due to 2p23 microdeletionNobuhiko Okamoto, Yasuhisa Toribe, Keiko Shimojima, et al.
Human Genome Variation|July 25, 2017
A 15q14 microdeletion involving <i>MEIS2</i> identified in a patient with autism spectrum disorderKeiko Shimojima, Yumiko Ondo, Nobuhiko Okamoto, et al.
Congenital Anomalies|February 2, 2017
Neurological manifestations of 2q31 microdeletion syndromeNobuhiko Okamoto, Sadami Kimura, Keiko Shimojima, et al.
American Journal of Medical Genetics. Part A|June 1, 2011
Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPVNobuhiko Okamoto, Yoshikazu Hatsukawa, Keiko Shimojima, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairmentKentaro Shirai, Yuya Higashi, Keiko Shimojima, et al.
Journal of Human Genetics|August 26, 2011
Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysisKeiko Shimojima, Nobuhiko Okamoto, Tetsuya Inazu, et al.
Human Genome Variation|March 23, 2017
A novel <i>COL1A1</i> mutation in a family with osteogenesis imperfecta associated with phenotypic variabilitiesToshiyuki Seto, Toshiyuki Yamamoto, Keiko Shimojima, et al.
Pageof 15

Showing results (11-20 of 142) with videos related to

Sort By:
Pageof 15
American Journal of Medical Genetics. Part A|January 8, 2016
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasiaKeiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Human Genome Variation|August 7, 2023
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive featuresKeiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto
Pediatrics and Neonatology|January 27, 2009
Application of array-based comparative genome hybridization in children with developmental delay or mental retardationJao-Shwann Liang, Keiko Shimojima, Toshiyuki Yamamoto
American Journal of Medical Genetics. Part A|February 12, 2016
Tatton-Brown-Rahman syndrome due to 2p23 microdeletionNobuhiko Okamoto, Yasuhisa Toribe, Keiko Shimojima, et al.
Human Genome Variation|July 25, 2017
A 15q14 microdeletion involving <i>MEIS2</i> identified in a patient with autism spectrum disorderKeiko Shimojima, Yumiko Ondo, Nobuhiko Okamoto, et al.
Congenital Anomalies|February 2, 2017
Neurological manifestations of 2q31 microdeletion syndromeNobuhiko Okamoto, Sadami Kimura, Keiko Shimojima, et al.
American Journal of Medical Genetics. Part A|June 1, 2011
Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPVNobuhiko Okamoto, Yoshikazu Hatsukawa, Keiko Shimojima, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairmentKentaro Shirai, Yuya Higashi, Keiko Shimojima, et al.
Journal of Human Genetics|August 26, 2011
Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysisKeiko Shimojima, Nobuhiko Okamoto, Tetsuya Inazu, et al.
Human Genome Variation|March 23, 2017
A novel <i>COL1A1</i> mutation in a family with osteogenesis imperfecta associated with phenotypic variabilitiesToshiyuki Seto, Toshiyuki Yamamoto, Keiko Shimojima, et al.
Pageof 15