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The Kobe Journal of Medical Sciences
|
November 19, 2021
Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation
Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Ryo Yabushita, et al.
International Journal of Molecular Sciences
|
May 24, 2020
Intronic Alternative Polyadenylation in the Middle of the <i>DMD</i> Gene Produces Half-Size N-Terminal Dystrophin with a Potential Implication of ECG Abnormalities of DMD Patients
Abdul Qawee Mahyoob Rani, Tetsushi Yamamoto, Tatsuya Kawaguchi, et al.
Molecular Genetics and Metabolism Reports
|
May 17, 2021
The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency
Ryosuke Bo, Hiroyuki Awano, Kenji Yamada, et al.
The Kobe Journal of Medical Sciences
|
February 24, 2025
Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan
Sungwon Hong, Kiiko Iketani, Shoko Sonehara, et al.
Genes
|
December 23, 2023
Real-Time PCR-Based Screening for Homozygous <i>SMN2</i> Deletion Using Residual Dried Blood Spots
Yoshihiro Bouike, Makoto Sakima, Yuya Taninishi, et al.
Brain & Development
|
March 30, 2016
Staurosporine allows dystrophin expression by skipping of nonsense-encoding exon
Atsushi Nishida, Ayaka Oda, Atsuko Takeuchi, et al.
The American Journal of Pathology
|
May 16, 2015
Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration
Hiroyuki Awano, Anthony Blaeser, Elizabeth Keramaris, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 28, 2017
Diagnostic and clinical significance of the titin fragment in urine of Duchenne muscular dystrophy patients
Hiroyuki Awano, Masaaki Matsumoto, Masashi Nagai, et al.
Human Mutation
|
November 19, 2011
Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon
Szilvia Solyom, Adam D Ewing, Dustin C Hancks, et al.
Brain & Development
|
March 20, 2018
Ambulatory capacity in Japanese patients with Duchenne muscular dystrophy
Hiroyuki Awano, Chieko Itoh, Yasuhiro Takeshima, et al.
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of 16
Search research articles
Search
Showing results (51-60 of 152) with videos related to
Sort By:
Page
of 16
The Kobe Journal of Medical Sciences
|
November 19, 2021
Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation
Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Ryo Yabushita, et al.
International Journal of Molecular Sciences
|
May 24, 2020
Intronic Alternative Polyadenylation in the Middle of the <i>DMD</i> Gene Produces Half-Size N-Terminal Dystrophin with a Potential Implication of ECG Abnormalities of DMD Patients
Abdul Qawee Mahyoob Rani, Tetsushi Yamamoto, Tatsuya Kawaguchi, et al.
Molecular Genetics and Metabolism Reports
|
May 17, 2021
The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency
Ryosuke Bo, Hiroyuki Awano, Kenji Yamada, et al.
The Kobe Journal of Medical Sciences
|
February 24, 2025
Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan
Sungwon Hong, Kiiko Iketani, Shoko Sonehara, et al.
Genes
|
December 23, 2023
Real-Time PCR-Based Screening for Homozygous <i>SMN2</i> Deletion Using Residual Dried Blood Spots
Yoshihiro Bouike, Makoto Sakima, Yuya Taninishi, et al.
Brain & Development
|
March 30, 2016
Staurosporine allows dystrophin expression by skipping of nonsense-encoding exon
Atsushi Nishida, Ayaka Oda, Atsuko Takeuchi, et al.
The American Journal of Pathology
|
May 16, 2015
Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration
Hiroyuki Awano, Anthony Blaeser, Elizabeth Keramaris, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 28, 2017
Diagnostic and clinical significance of the titin fragment in urine of Duchenne muscular dystrophy patients
Hiroyuki Awano, Masaaki Matsumoto, Masashi Nagai, et al.
Human Mutation
|
November 19, 2011
Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon
Szilvia Solyom, Adam D Ewing, Dustin C Hancks, et al.
Brain & Development
|
March 20, 2018
Ambulatory capacity in Japanese patients with Duchenne muscular dystrophy
Hiroyuki Awano, Chieko Itoh, Yasuhiro Takeshima, et al.
Page
of 16