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Brain & Development
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October 10, 2020
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene
Emma Tabe Eko Niba, Hisahide Nishio, Yogik Onky Silvana Wijaya, et al.
Pediatric Research
|
July 18, 2021
Assessment of catabolic state in infants with the use of urinary titin N-fragment
Sachiyo Fukushima, Nobuto Nakanishi, Kazumichi Fujioka, et al.
Neurology. Genetics
|
December 23, 2024
Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications
Akinori Nakamura, Tsuyoshi Matsumura, Katsuhisa Ogata, et al.
The Kobe Journal of Medical Sciences
|
February 8, 2020
Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR
Atsuko Takeuchi, Chisato Tode, Masayoshi Nishino, et al.
Annals of Clinical and Translational Neurology
|
January 21, 2020
Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy
Hirofumi Komaki, Yoshihiro Maegaki, Tsuyoshi Matsumura, et al.
Molecular Genetics and Metabolism
|
April 26, 2011
Two closely spaced nonsense mutations in the DMD gene in a Malaysian family
Abdul Qawee Rani, Rusdy Ghazali Malueka, Teguh Haryo Sasongko, et al.
The Kobe Journal of Medical Sciences
|
February 14, 2018
SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA
Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, et al.
Brain & Development
|
April 4, 2017
SMA mutations in SMN Tudor and C-terminal domains destabilize the protein
Toru Takarada, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, et al.
International Journal of Molecular Sciences
|
May 24, 2018
Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System
Tatsuya Kawaguchi, Emma Tabe Eko Niba, Abdul Qawee Mahyoob Rani, et al.
Brain & Development
|
July 6, 2017
Spinal muscular atrophy carriers with two SMN1 copies
Mawaddah Ar Rochmah, Hiroyuki Awano, Tomonari Awaya, et al.
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of 16
Search research articles
Search
Showing results (121-130 of 152) with videos related to
Sort By:
Page
of 16
Brain & Development
|
October 10, 2020
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene
Emma Tabe Eko Niba, Hisahide Nishio, Yogik Onky Silvana Wijaya, et al.
Pediatric Research
|
July 18, 2021
Assessment of catabolic state in infants with the use of urinary titin N-fragment
Sachiyo Fukushima, Nobuto Nakanishi, Kazumichi Fujioka, et al.
Neurology. Genetics
|
December 23, 2024
Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications
Akinori Nakamura, Tsuyoshi Matsumura, Katsuhisa Ogata, et al.
The Kobe Journal of Medical Sciences
|
February 8, 2020
Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR
Atsuko Takeuchi, Chisato Tode, Masayoshi Nishino, et al.
Annals of Clinical and Translational Neurology
|
January 21, 2020
Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy
Hirofumi Komaki, Yoshihiro Maegaki, Tsuyoshi Matsumura, et al.
Molecular Genetics and Metabolism
|
April 26, 2011
Two closely spaced nonsense mutations in the DMD gene in a Malaysian family
Abdul Qawee Rani, Rusdy Ghazali Malueka, Teguh Haryo Sasongko, et al.
The Kobe Journal of Medical Sciences
|
February 14, 2018
SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA
Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, et al.
Brain & Development
|
April 4, 2017
SMA mutations in SMN Tudor and C-terminal domains destabilize the protein
Toru Takarada, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, et al.
International Journal of Molecular Sciences
|
May 24, 2018
Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System
Tatsuya Kawaguchi, Emma Tabe Eko Niba, Abdul Qawee Mahyoob Rani, et al.
Brain & Development
|
July 6, 2017
Spinal muscular atrophy carriers with two SMN1 copies
Mawaddah Ar Rochmah, Hiroyuki Awano, Tomonari Awaya, et al.
Page
of 16