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Journal of Human Genetics
|
November 15, 2013
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients
Tomoko Lee, Yasuhiro Takeshima, Noriko Kusunoki, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
October 19, 2013
Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene
Hiroyuki Awano, Tomoko Lee, Mariko Yagi, et al.
International Journal of Molecular Sciences
|
August 12, 2023
Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment
Hisahide Nishio, Emma Tabe Eko Niba, Toshio Saito, et al.
Human Genome Variation
|
May 3, 2019
Two closely spaced mutations <i>in cis</i> result in Ullrich congenital muscular dystrophy
Hideki Shimomura, Tomoko Lee, Yasuhiko Tanaka, et al.
Advances in Therapy
|
March 21, 2022
Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy
Min Yang, Hiroyuki Awano, Satoru Tanaka, et al.
Genes
|
October 5, 2017
Dystrophin Dp116: A yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene
Masafumi Matsuo, Hiroyuki Awano, Masaaki Matsumoto, et al.
Brain & Development
|
March 25, 2026
A novel splice site variant in TIMM8A induced abnormal mRNA splicing resulting in Mohr-Tranebjaerg syndrome
Hiroaki Hanafusa, Yusuke Ishida, Ryosuke Bo, et al.
Molecular Genetics and Metabolism Reports
|
August 11, 2020
False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight
Ryosuke Bo, Hiroyuki Awano, Kosuke Nishida, et al.
Scientific Reports
|
July 26, 2024
Bipolar transverse thermopower and low thermal conductivity for an anomalous Nernst-type heat flux sensor in GdCo alloys
Miho Odagiri, Hiroto Imaeda, Ahmet Yagmur, et al.
SAGE Open Medical Case Reports
|
January 8, 2024
Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report
Yoshinori Nambu, Taku Shirakawa, Kayo Osawa, et al.
Page
of 16
Search research articles
Search
Showing results (31-40 of 152) with videos related to
Sort By:
Page
of 16
Journal of Human Genetics
|
November 15, 2013
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients
Tomoko Lee, Yasuhiro Takeshima, Noriko Kusunoki, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
October 19, 2013
Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene
Hiroyuki Awano, Tomoko Lee, Mariko Yagi, et al.
International Journal of Molecular Sciences
|
August 12, 2023
Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment
Hisahide Nishio, Emma Tabe Eko Niba, Toshio Saito, et al.
Human Genome Variation
|
May 3, 2019
Two closely spaced mutations <i>in cis</i> result in Ullrich congenital muscular dystrophy
Hideki Shimomura, Tomoko Lee, Yasuhiko Tanaka, et al.
Advances in Therapy
|
March 21, 2022
Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy
Min Yang, Hiroyuki Awano, Satoru Tanaka, et al.
Genes
|
October 5, 2017
Dystrophin Dp116: A yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene
Masafumi Matsuo, Hiroyuki Awano, Masaaki Matsumoto, et al.
Brain & Development
|
March 25, 2026
A novel splice site variant in TIMM8A induced abnormal mRNA splicing resulting in Mohr-Tranebjaerg syndrome
Hiroaki Hanafusa, Yusuke Ishida, Ryosuke Bo, et al.
Molecular Genetics and Metabolism Reports
|
August 11, 2020
False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight
Ryosuke Bo, Hiroyuki Awano, Kosuke Nishida, et al.
Scientific Reports
|
July 26, 2024
Bipolar transverse thermopower and low thermal conductivity for an anomalous Nernst-type heat flux sensor in GdCo alloys
Miho Odagiri, Hiroto Imaeda, Ahmet Yagmur, et al.
SAGE Open Medical Case Reports
|
January 8, 2024
Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report
Yoshinori Nambu, Taku Shirakawa, Kayo Osawa, et al.
Page
of 16