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Nur Imma Fatimah Harahap
Nur Imma Fatimah Harahap
Dept of Clinical Pathology and Laboratory Medicine, Faculty of Medicine, Universitas Gadjah Mada
在 ugm.ac.id 的电子邮件经过验证
标题
引用次数
年份
A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper.
N Sa'adah, NI Harahap, DK Nurputra, MA Rochmah, S Morikawa, ...
Clinical Laboratory 61 (5-6), 575-580, 2015
92015
A Study of valproic acid for patients with spinal muscular atrophy
T Saito, DK Nurputra, NIF Harahap, ISK Harahap, H Yamamoto, ...
Neurology and Clinical Neuroscience 3 (2), 49-57, 2015
92015
Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
S Yoshimoto, NIF Harahap, Y Hamamura, M Ar Rochmah, A Shima, ...
Human Genome Variation 3 (1), 1-3, 2016
152016
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
YOS Wijaya, J Purevsuren, NIF Harahap, ETE Niba, Y Bouike, ...
International journal of neonatal screening 6 (2), 43, 2020
112020
Attention Deficit/Hyperactivity Disorder (ADHD): age related change of completion time and error rates of Stroop test
C Thursina, MA Rochmah, DK Nurputra, ISK Harahap, NIF Harahap, ...
Kobe J Med Sci 61 (1), E19-26, 2015
162015
Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series
CTS Setyaningrum, ISK Harahap, DK Nurputra, M Ar Rochmah, ...
Journal of Medical Case Reports 16 (1), 435, 2022
42022
Determining the association between polymorphisms of the DAT1 and DRD4 genes with attention deficit hyperactivity disorder in children from Java Island
C Thursina, DK Nurputra, ISK Harahap, NIF Harahap, N Sa’adah, ...
Neurology International 12 (1), 2020
42020
Dried blood spot screening system for spinal muscular atrophy with allele-specific polymerase chain reaction and melting peak analysis
YOS Wijaya, H Nishio, ETE Niba, T Shiroshita, M Kato, Y Bouike, C Tode, ...
Genetic Testing and Molecular Biomarkers 25 (4), 293-301, 2021
72021
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JZ Wang, P Wu, ZM Shi, YL Xu, ZJ Liu, M Yoshida, K Asagiri, S Fukahori, ...
Gender effects on the clinical phenotype in Japanese patients with spinal muscular atrophy
MA Rochmah, A Shima, NIF Harahap, ETE Niba, N Morisada, ...
Kobe Journal of medical sciences 63 (2), E41, 2017
162017
Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA
MA Rochmah, NIF Harahap, ETE Niba, K Nakanishi, H Awano, I Morioka, ...
Brain and Development 39 (9), 774-782, 2017
222017
Gestational age-dependent increase of survival motor neuron protein in umbilical cord-derived mesenchymal stem cells
S Iwatani, NIF Harahap, DK Nurputra, S Tairaku, A Shono, D Kurokawa, ...
Frontiers in Pediatrics 5, 194, 2017
52017
Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients
T Yamamoto, H Sato, P San Lai, DK Nurputra, NIF Harahap, S Morikawa, ...
Brain and Development 36 (10), 914-920, 2014
542014
Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2
NIF Harahap, ETE Niba, MA Rochmah, YOS Wijaya, T Saito, K Saito, ...
Brain and Development 40 (8), 670-677, 2018
92018
Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report
CTS Setyaningrum, ISK Harahap, DK Nurputra, IT Rachman, ...
Journal of Medical Case Reports 16 (1), 14, 2022
32022
Matos-Carvalho Index as a Comparison to other Discriminant Indexes in Initial Beta Thalassemia
M Ong, T Ratnaningsih, NI Harahap, I Lesmana, NSN Handayani
Jurnal Biomedika dan Kesehatan 7 (2), 108-117, 2024
2024
Nested PCR amplification secures DNA template quality and quantity in real-time mCOP-PCR screening for SMA
YOS Wijaya, ETE Niba, MA Rochmah, NIF Harahap, H Awano, ...
Kobe Journal of Medical Sciences 65 (2), E54, 2019
32019
New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion
M Shinohara, MA Rochmah, K Nakanishi, NIF Harahap, ETE Niba, T Saito, ...
Kobe Journal of Medical Sciences 63 (2), E37, 2017
42017
Pengkayaan ilmu petugas puskesmas sebagai langkah penurunan angka anemia di Kabupaten Sleman
E Huriyati, T Ratnaningsih, A Wahab, A Farmawati, NIF Harahap, A Nisa
Journal of Community Empowerment for Health 1 (1), 22-27, 2018
12018
Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients
MA Rochmah, YOS Wijaya, NIF Harahap, C Tode, A Takeuchi, K Ohuchi, ...
Kobe Journal of Medical Sciences 66 (1), E1, 2020
52020
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