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Clinical Laboratory|June 30, 2015
A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter PaperNihayatus Sa'adah, Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, et al.
Brain & Development|December 3, 2014
Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMANur Imma Fatimah Harahap, Atsuko Takeuchi, Surini Yusoff, 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 PCRAtsuko Takeuchi, Chisato Tode, Masayoshi Nishino, 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 DNAEmma 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 proteinToru Takarada, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, et al.
Brain & Development|July 6, 2017
Spinal muscular atrophy carriers with two SMN1 copiesMawaddah Ar Rochmah, Hiroyuki Awano, Tomonari Awaya, et al.
Brain & Development|May 13, 2011
Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell linesIndra Sari Kusuma Harahap, Toshio Saito, Lai Poh San, et al.
The Kobe Journal of Medical Sciences|March 21, 2015
SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion testNozomu Kato, Nihayatus Sa'Adah, Mawaddah Ar Rochmah, et al.
Human Genome Variation|December 6, 2016
Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2Satomi Yoshimoto, Nur Imma Fatimah Harahap, Yuko Hamamura, et al.
The Kobe Journal of Medical Sciences|January 21, 2020
Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMAYogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Mawaddah Ar Rochmah, et al.
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