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Hiroyuki Awano

Showing results (131-140 of 152) with videos related to

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European Journal of Medical Genetics|August 14, 2017
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndromeKeita Nakanishi, Kandai Nozu, Ryugo Hiramoto, et al.
Scientific Reports|December 10, 2016
Gestational age-dependency of height and body mass index trajectories during the first 3 years in Japanese small-for-gestational age childrenKaori Maeyama, Ichiro Morioka, Sota Iwatani, et al.
Kidney International Reports|January 10, 2022
Last Nucleotide Substitutions of <i>COL4A5</i> Exons Cause Aberrant SplicingYuya Aoto, Tomoko Horinouchi, Tomohiko Yamamura, 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.
Brain & Development|May 29, 2017
Clinical features in very early-onset demyelinating disease with anti-MOG antibodyMasahiro Nishiyama, Hiroaki Nagase, Masaaki Matsumoto, et al.
Brain & Development|March 28, 2018
Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Mawaddah Ar Rochmah, et al.
Human Genome Variation|December 6, 2016
Alternative splicing of a cryptic exon embedded in intron 6 of <i>SMN1</i> and <i>SMN2</i>Satomi Yoshimoto, Nur Imma Fatimah Harahap, Yuko Hamamura, et al.
The Kobe Journal of Medical Sciences|January 21, 2020
Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 DeletionEmma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 19, 2024
Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophyHiroyuki Awano, Yoshinori Nambu, Kayo Osawa, et al.
The Kobe Journal of Medical Sciences|January 21, 2020
Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 DeletionEmma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, et al.
Pageof 16

Showing results (131-140 of 152) with videos related to

Sort By:
Pageof 16
European Journal of Medical Genetics|August 14, 2017
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndromeKeita Nakanishi, Kandai Nozu, Ryugo Hiramoto, et al.
Scientific Reports|December 10, 2016
Gestational age-dependency of height and body mass index trajectories during the first 3 years in Japanese small-for-gestational age childrenKaori Maeyama, Ichiro Morioka, Sota Iwatani, et al.
Kidney International Reports|January 10, 2022
Last Nucleotide Substitutions of <i>COL4A5</i> Exons Cause Aberrant SplicingYuya Aoto, Tomoko Horinouchi, Tomohiko Yamamura, 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.
Brain & Development|May 29, 2017
Clinical features in very early-onset demyelinating disease with anti-MOG antibodyMasahiro Nishiyama, Hiroaki Nagase, Masaaki Matsumoto, et al.
Brain & Development|March 28, 2018
Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Mawaddah Ar Rochmah, et al.
Human Genome Variation|December 6, 2016
Alternative splicing of a cryptic exon embedded in intron 6 of <i>SMN1</i> and <i>SMN2</i>Satomi Yoshimoto, Nur Imma Fatimah Harahap, Yuko Hamamura, et al.
The Kobe Journal of Medical Sciences|January 21, 2020
Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 DeletionEmma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 19, 2024
Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophyHiroyuki Awano, Yoshinori Nambu, Kayo Osawa, et al.
The Kobe Journal of Medical Sciences|January 21, 2020
Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 DeletionEmma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, et al.
Pageof 16