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Brain & Development
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October 7, 2008
Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2)
Keiko Shimojima, Marco T Páez, Kenji Kurosawa, 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 Design
Takeaki Tamura, Taichi Imaizumi, Keiko Shimojima Yamamoto, et al.
Brain & Development
|
July 7, 2024
Glass syndrome derived from chromosomal breakage downstream region of SATB2
Keiko Shimojima Yamamoto, Rina Shimomura, Hiromichi Shoji, et al.
Congenital Anomalies
|
May 28, 2016
A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features
Toshiyuki Yamamoto, Keiko Shimojima, Sawako Yamazaki, et al.
Human Genome Variation
|
April 6, 2018
Infantile spasms related to a 5q31.2-q31.3 microdeletion including <i>PURA</i>
Keiko Shimojima, Nobuhiko Okamoto, Kayo Ohmura, et al.
Epilepsy Research
|
November 13, 2015
Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations
Noriko Sangu, Keiko Shimojima, Okumura Akihisa, et al.
American Journal of Medical Genetics. Part A
|
May 3, 2013
109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome
Nobuhiko Okamoto, Kazumi Ohmachi, Shino Shimada, et al.
Arerugi = [Allergy]
|
July 13, 2004
[Rice pollen asthma and pollinosis in childhood: seasonal asthma and allergic rhinoconjunctivitis during the period of rice pollen emission in the surrouding area of rice field]
Akihiko Yabuhara, Keiko Shimojima, Megumi Hokura, et al.
American Journal of Medical Genetics. Part A
|
December 6, 2011
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years
Ikuko Takahashi, Tsutomu Takahashi, Kenichi Sawada, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2011
Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay
Nobuhiko Okamoto, Daisuke Tamura, Gen Nishimura, et al.
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of 15
Search research articles
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Showing results (21-30 of 142) with videos related to
Sort By:
Page
of 15
Brain & Development
|
October 7, 2008
Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2)
Keiko Shimojima, Marco T Páez, Kenji Kurosawa, 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 Design
Takeaki Tamura, Taichi Imaizumi, Keiko Shimojima Yamamoto, et al.
Brain & Development
|
July 7, 2024
Glass syndrome derived from chromosomal breakage downstream region of SATB2
Keiko Shimojima Yamamoto, Rina Shimomura, Hiromichi Shoji, et al.
Congenital Anomalies
|
May 28, 2016
A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features
Toshiyuki Yamamoto, Keiko Shimojima, Sawako Yamazaki, et al.
Human Genome Variation
|
April 6, 2018
Infantile spasms related to a 5q31.2-q31.3 microdeletion including <i>PURA</i>
Keiko Shimojima, Nobuhiko Okamoto, Kayo Ohmura, et al.
Epilepsy Research
|
November 13, 2015
Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations
Noriko Sangu, Keiko Shimojima, Okumura Akihisa, et al.
American Journal of Medical Genetics. Part A
|
May 3, 2013
109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome
Nobuhiko Okamoto, Kazumi Ohmachi, Shino Shimada, et al.
Arerugi = [Allergy]
|
July 13, 2004
[Rice pollen asthma and pollinosis in childhood: seasonal asthma and allergic rhinoconjunctivitis during the period of rice pollen emission in the surrouding area of rice field]
Akihiko Yabuhara, Keiko Shimojima, Megumi Hokura, et al.
American Journal of Medical Genetics. Part A
|
December 6, 2011
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years
Ikuko Takahashi, Tsutomu Takahashi, Kenichi Sawada, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2011
Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay
Nobuhiko Okamoto, Daisuke Tamura, Gen Nishimura, et al.
Page
of 15