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BMC Medical Genetics
|
March 31, 2010
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD
Yo Okizuka, Yasuhiro Takeshima, Kyoko Itoh, et al.
The Kobe Journal of Medical Sciences
|
January 22, 2008
Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation
Wakako Ogino, Yasuhiro Takeshima, Atsushi Nishiyama, et al.
Genes
|
February 18, 2017
2'-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping
Tomoko Lee, Hiroyuki Awano, Mariko Yagi, et al.
Nature Communications
|
May 11, 2011
Chemical treatment enhances skipping of a mutated exon in the dystrophin gene
Atsushi Nishida, Naoyuki Kataoka, Yasuhiro Takeshima, et al.
The Kobe Journal of Medical Sciences
|
March 21, 2015
Phosphorothioate modification of chimeric 2´-O-methyl RNA/ethylene-bridged nucleic acid oligonucleotides increases dystrophin exon 45 skipping capability and reduces cytotoxicity
Rusdy Ghazali Malueka, Ery Kus Dwianingsih, Mariko Yagi, et al.
Nucleic Acid Therapeutics
|
October 5, 2011
Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system
Rusdy Ghazali Malueka, Mariko Yagi, Hiroyuki Awano, et al.
Journal of Human Genetics
|
December 11, 2012
Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28
Thi Hoai Thu Tran, Zhujun Zhang, Mariko Yagi, et al.
Scientific Reports
|
March 26, 2014
Association of a vascular endothelial growth factor polymorphism with the development of bronchopulmonary dysplasia in Japanese premature newborns
Kazumichi Fujioka, Akio Shibata, Tomoyuki Yokota, et al.
Molecular Genetics and Metabolism
|
October 18, 2011
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence
Mariko Yagi, Tomoko Lee, Hiroyuki Awano, et al.
Gene
|
November 6, 2012
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1
Tomoko Lee, Yasuhiro Takeshima, Yo Okizuka, et al.
Page
of 8
Search research articles
Search
Showing results (41-50 of 76) with videos related to
Sort By:
Page
of 8
BMC Medical Genetics
|
March 31, 2010
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD
Yo Okizuka, Yasuhiro Takeshima, Kyoko Itoh, et al.
The Kobe Journal of Medical Sciences
|
January 22, 2008
Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation
Wakako Ogino, Yasuhiro Takeshima, Atsushi Nishiyama, et al.
Genes
|
February 18, 2017
2'-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping
Tomoko Lee, Hiroyuki Awano, Mariko Yagi, et al.
Nature Communications
|
May 11, 2011
Chemical treatment enhances skipping of a mutated exon in the dystrophin gene
Atsushi Nishida, Naoyuki Kataoka, Yasuhiro Takeshima, et al.
The Kobe Journal of Medical Sciences
|
March 21, 2015
Phosphorothioate modification of chimeric 2´-O-methyl RNA/ethylene-bridged nucleic acid oligonucleotides increases dystrophin exon 45 skipping capability and reduces cytotoxicity
Rusdy Ghazali Malueka, Ery Kus Dwianingsih, Mariko Yagi, et al.
Nucleic Acid Therapeutics
|
October 5, 2011
Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system
Rusdy Ghazali Malueka, Mariko Yagi, Hiroyuki Awano, et al.
Journal of Human Genetics
|
December 11, 2012
Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28
Thi Hoai Thu Tran, Zhujun Zhang, Mariko Yagi, et al.
Scientific Reports
|
March 26, 2014
Association of a vascular endothelial growth factor polymorphism with the development of bronchopulmonary dysplasia in Japanese premature newborns
Kazumichi Fujioka, Akio Shibata, Tomoyuki Yokota, et al.
Molecular Genetics and Metabolism
|
October 18, 2011
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence
Mariko Yagi, Tomoko Lee, Hiroyuki Awano, et al.
Gene
|
November 6, 2012
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1
Tomoko Lee, Yasuhiro Takeshima, Yo Okizuka, et al.
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of 8