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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.
No to Hattatsu = Brain and Development
|
June 29, 2016
[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood]
Naoya Morisada, Syuichi Tsuneishi, Kazuhiro Taguchi, 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.
Molecular Vision
|
December 15, 2010
Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity
Ikuko Kubokawa, Yasuhiro Takeshima, Mitsunori Ota, et al.
The Journal of Pediatrics
|
July 25, 2006
Congenital cardiovascular malformations are complicated in neuroblastomas identified by mass screening but not by clinical examination in Japan
Tomoko Yanai, Daiichiro Hasegawa, Yoshiyuki Kosaka, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 23, 2013
A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old
Taku Nakagawa, Atsuko Takeuchi, Ryohei Kakiuchi, et al.
Pediatric Research
|
April 22, 2006
Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy
Yasuhiro Takeshima, Mariko Yagi, Hiroko Wada, et al.
No Shinkei Geka. Neurological Surgery
|
July 30, 2011
[Investigation of pseudolocalizing signs in the lumbar region: analysis of L5 monoradiculopathy due to upper lumbar compressive lesions]
Hiroyuki Ikeda, Junya Hanakita, Toshiyuki Takahashi, et al.
Page
of 32
Search research articles
Search
Showing results (171-180 of 317) with videos related to
Sort By:
Page
of 32
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.
No to Hattatsu = Brain and Development
|
June 29, 2016
[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood]
Naoya Morisada, Syuichi Tsuneishi, Kazuhiro Taguchi, 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.
Molecular Vision
|
December 15, 2010
Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity
Ikuko Kubokawa, Yasuhiro Takeshima, Mitsunori Ota, et al.
The Journal of Pediatrics
|
July 25, 2006
Congenital cardiovascular malformations are complicated in neuroblastomas identified by mass screening but not by clinical examination in Japan
Tomoko Yanai, Daiichiro Hasegawa, Yoshiyuki Kosaka, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 23, 2013
A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old
Taku Nakagawa, Atsuko Takeuchi, Ryohei Kakiuchi, et al.
Pediatric Research
|
April 22, 2006
Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy
Yasuhiro Takeshima, Mariko Yagi, Hiroko Wada, et al.
No Shinkei Geka. Neurological Surgery
|
July 30, 2011
[Investigation of pseudolocalizing signs in the lumbar region: analysis of L5 monoradiculopathy due to upper lumbar compressive lesions]
Hiroyuki Ikeda, Junya Hanakita, Toshiyuki Takahashi, et al.
Page
of 32