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Shino Shimada

Showing results (1-10 of 45) with videos related to

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Human Genome Variation|November 7, 2024
A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplicationTakato Akiba, Shino Shimada, Katsumi Imai, et al.
American Journal of Medical Genetics. Part A|December 7, 2013
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndromeShino Shimada, Yoshihiro Maegaki, Makiko Osawa, et al.
Congenital Anomalies|April 23, 2014
Growth patterns of patients with 1p36 deletion syndromeNoriko Sangu, Keiko Shimojima, Shino Shimada, 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 syndromeNobuhiko Okamoto, Kazumi Ohmachi, Shino Shimada, et al.
European Journal of Medical Genetics|July 21, 2015
Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patientsToshiyuki Yamamoto, Shino Shimada, Keiko Shimojima, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformationKeiko Shimojima, Nobuhiko Okamoto, Akiko Tamasaki, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4Toshiyuki Yamamoto, Masami Togawa, Shino Shimada, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 1, 2023
A case report of hydrocephalus due to diffuse villous hyperplasia of the choroid plexus: surgical treatment by combination a flexible videoscope with a rigid endoscopeShintaro Nakajima, Keisuke Murofushi, Shinpei Matsuda, et al.
Congenital Anomalies|April 10, 2014
Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1Keiko Shimojima, Shino Shimada, Midori Sugawara, et al.
Journal of the Neurological Sciences|May 21, 2013
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like diseaseKeiko Shimojima, Ryuta Tanaka, Shino Shimada, et al.
Pageof 5

Showing results (1-10 of 45) with videos related to

Sort By:
Pageof 5
Human Genome Variation|November 7, 2024
A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplicationTakato Akiba, Shino Shimada, Katsumi Imai, et al.
American Journal of Medical Genetics. Part A|December 7, 2013
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndromeShino Shimada, Yoshihiro Maegaki, Makiko Osawa, et al.
Congenital Anomalies|April 23, 2014
Growth patterns of patients with 1p36 deletion syndromeNoriko Sangu, Keiko Shimojima, Shino Shimada, 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 syndromeNobuhiko Okamoto, Kazumi Ohmachi, Shino Shimada, et al.
European Journal of Medical Genetics|July 21, 2015
Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patientsToshiyuki Yamamoto, Shino Shimada, Keiko Shimojima, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformationKeiko Shimojima, Nobuhiko Okamoto, Akiko Tamasaki, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4Toshiyuki Yamamoto, Masami Togawa, Shino Shimada, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 1, 2023
A case report of hydrocephalus due to diffuse villous hyperplasia of the choroid plexus: surgical treatment by combination a flexible videoscope with a rigid endoscopeShintaro Nakajima, Keisuke Murofushi, Shinpei Matsuda, et al.
Congenital Anomalies|April 10, 2014
Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1Keiko Shimojima, Shino Shimada, Midori Sugawara, et al.
Journal of the Neurological Sciences|May 21, 2013
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like diseaseKeiko Shimojima, Ryuta Tanaka, Shino Shimada, et al.
Pageof 5