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Keiko Shimojima

Showing results (31-40 of 142) with videos related to

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European Journal of Medical Genetics|September 23, 2009
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebraeKeiko Shimojima, Takehiko Inoue, Yuji Fujii, 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|April 4, 2017
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicismToshiyuki Yamamoto, Keiko Shimojima, Yumiko Ondo, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 21, 2014
Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxiaKaeko Ogura, Kenzo Takeshita, Chikako Arakawa, et al.
Human Genome Variation|August 10, 2017
A novel <i>TUBB4A</i> mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescenceYongping Lu, Yumiko Ondo, Keiko Shimojima, et al.
European Journal of Medical Genetics|September 14, 2017
Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephalyKeiko Shimojima, Nobuhiko Okamoto, Himanshu Goel, et al.
Human Genome Variation|January 20, 2017
A novel <i>PLP1</i> mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher diseaseYongping Lu, Keiko Shimojima, Tomoko Sakuma, et al.
Human Genome Variation|May 15, 2024
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease traitKeiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, 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.
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.
Pageof 15

Showing results (31-40 of 142) with videos related to

Sort By:
Pageof 15
European Journal of Medical Genetics|September 23, 2009
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebraeKeiko Shimojima, Takehiko Inoue, Yuji Fujii, 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|April 4, 2017
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicismToshiyuki Yamamoto, Keiko Shimojima, Yumiko Ondo, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 21, 2014
Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxiaKaeko Ogura, Kenzo Takeshita, Chikako Arakawa, et al.
Human Genome Variation|August 10, 2017
A novel <i>TUBB4A</i> mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescenceYongping Lu, Yumiko Ondo, Keiko Shimojima, et al.
European Journal of Medical Genetics|September 14, 2017
Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephalyKeiko Shimojima, Nobuhiko Okamoto, Himanshu Goel, et al.
Human Genome Variation|January 20, 2017
A novel <i>PLP1</i> mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher diseaseYongping Lu, Keiko Shimojima, Tomoko Sakuma, et al.
Human Genome Variation|May 15, 2024
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease traitKeiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, 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.
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.
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