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Keiko Shimojima

Showing results (61-70 of 142) with videos related to

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Congenital Anomalies|April 10, 2014
Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubismNoriko Sangu, Tsuyoshi Shimosato, Hirosato Inoda, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosumKeiko Shimojima, Akihisa Okumura, Harushi Mori, 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.
American Journal of Medical Genetics. Part A|March 16, 2013
A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesityMinobu Shichiji, Yasushi Ito, Keiko Shimojima, 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.
Human Genome Variation|April 16, 2016
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizuresShino Shimada, Yoshiko Hirano, Susumu Ito, et al.
Journal of Human Genetics|June 3, 2011
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsyKeiko Shimojima, Midori Sugawara, Minobu Shichiji, et al.
Brain & Development|February 13, 2016
Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutationAyuko Igarashi, Akihisa Okumura, Keiko Shimojima, et al.
The Tohoku Journal of Experimental Medicine|September 16, 2021
Enzymatic Changes in Red Blood Cells of Diamond-Blackfan AnemiaTaiju Utsugisawa, Toshitaka Uchiyama, Tsutomu Toki, et al.
Journal of Pediatric Genetics|November 17, 2017
Mutations in <i>NSD1</i> and <i>NFIX</i> in Three Patients with Clinical Features of Sotos Syndrome and Malan SyndromeYongping Lu, Pin Fee Chong, Ryutaro Kira, et al.
Pageof 15

Showing results (61-70 of 142) with videos related to

Sort By:
Pageof 15
Congenital Anomalies|April 10, 2014
Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubismNoriko Sangu, Tsuyoshi Shimosato, Hirosato Inoda, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosumKeiko Shimojima, Akihisa Okumura, Harushi Mori, 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.
American Journal of Medical Genetics. Part A|March 16, 2013
A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesityMinobu Shichiji, Yasushi Ito, Keiko Shimojima, 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.
Human Genome Variation|April 16, 2016
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizuresShino Shimada, Yoshiko Hirano, Susumu Ito, et al.
Journal of Human Genetics|June 3, 2011
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsyKeiko Shimojima, Midori Sugawara, Minobu Shichiji, et al.
Brain & Development|February 13, 2016
Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutationAyuko Igarashi, Akihisa Okumura, Keiko Shimojima, et al.
The Tohoku Journal of Experimental Medicine|September 16, 2021
Enzymatic Changes in Red Blood Cells of Diamond-Blackfan AnemiaTaiju Utsugisawa, Toshitaka Uchiyama, Tsutomu Toki, et al.
Journal of Pediatric Genetics|November 17, 2017
Mutations in <i>NSD1</i> and <i>NFIX</i> in Three Patients with Clinical Features of Sotos Syndrome and Malan SyndromeYongping Lu, Pin Fee Chong, Ryutaro Kira, et al.
Pageof 15