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American Journal of Medical Genetics. Part A
|
May 20, 2011
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination
Keiko Shimojima, Bertrand Isidor, Cédric Le Caignec, et al.
Intractable & Rare Diseases Research
|
September 26, 2017
A novel <i>CASK</i> mutation identified in siblings exhibiting developmental disorders with/without microcephaly
Toshiyuki Seto, Takashi Hamazaki, Satsuki Nishigaki, et al.
Brain & Development
|
May 23, 2013
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination
Keiko Shimojima, Shino Shimada, Akiko Tamasaki, et al.
Pediatric Neurology
|
September 7, 2014
3p interstitial deletion including PRICKLE2 in identical twins with autistic features
Akihisa Okumura, Toshiyuki Yamamoto, Masakazu Miyajima, et al.
Brain & Development
|
June 30, 2014
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease
Keiko Shimojima, Akihisa Okumura, Mitsuru Ikeno, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease
Shino Shimada, Kazushi Miya, Nozomi Oda, et al.
Human Genome Variation
|
April 16, 2016
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy
Toshiyuki Yamamoto, Keiko Shimojima, Nobusuke Kimura, et al.
Brain & Development
|
May 24, 2011
Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia
Keiko Shimojima, Akihisa Okumura, Jun Natsume, et al.
European Journal of Medical Genetics
|
April 12, 2012
Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region
Keiko Shimojima, Toshiyuki Mano, Mitsuru Kashiwagi, et al.
Human Genome Variation
|
April 16, 2016
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
Toshiyuki Yamamoto, Keiko Shimojima, Takashi Shibata, et al.
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Search research articles
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Showing results (71-80 of 142) with videos related to
Sort By:
Page
of 15
American Journal of Medical Genetics. Part A
|
May 20, 2011
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination
Keiko Shimojima, Bertrand Isidor, Cédric Le Caignec, et al.
Intractable & Rare Diseases Research
|
September 26, 2017
A novel <i>CASK</i> mutation identified in siblings exhibiting developmental disorders with/without microcephaly
Toshiyuki Seto, Takashi Hamazaki, Satsuki Nishigaki, et al.
Brain & Development
|
May 23, 2013
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination
Keiko Shimojima, Shino Shimada, Akiko Tamasaki, et al.
Pediatric Neurology
|
September 7, 2014
3p interstitial deletion including PRICKLE2 in identical twins with autistic features
Akihisa Okumura, Toshiyuki Yamamoto, Masakazu Miyajima, et al.
Brain & Development
|
June 30, 2014
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease
Keiko Shimojima, Akihisa Okumura, Mitsuru Ikeno, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease
Shino Shimada, Kazushi Miya, Nozomi Oda, et al.
Human Genome Variation
|
April 16, 2016
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy
Toshiyuki Yamamoto, Keiko Shimojima, Nobusuke Kimura, et al.
Brain & Development
|
May 24, 2011
Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia
Keiko Shimojima, Akihisa Okumura, Jun Natsume, et al.
European Journal of Medical Genetics
|
April 12, 2012
Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region
Keiko Shimojima, Toshiyuki Mano, Mitsuru Kashiwagi, et al.
Human Genome Variation
|
April 16, 2016
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
Toshiyuki Yamamoto, Keiko Shimojima, Takashi Shibata, et al.
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of 15