D. K. Nurputra

发表

SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test.

H. Nishio, A. Sadewa, Nozomu Katō, 2015, The Kobe journal of medical sciences.

Paramyotonia congenita: From clinical diagnosis to in silico protein modeling analysis

Y. Takeshima, H. Nishio, M. Matsuo, 2012, Pediatrics international : official journal of the Japan Pediatric Society.

Determining the association between polymorphisms of the DAT1 and DRD4 genes with attention deficit hyperactivity disorder in children from Java Island

H. Nishio, A. Sadewa, Nihayatus Sa’adah, 2020, Neurology international.

Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells

Y. Tohyama, H. Nishio, Mawaddah Ar Rochmah, 2015, Biochemistry and biophysics reports.

Hybrid learning method based on feature clustering and scoring for enhanced COVID-19 breath analysis by an electronic nose

D. K. Nurputra, K. Triyana, H. Wasisto, 2022, Artificial Intelligence in Medicine.

Fast and noninvasive electronic nose for sniffing out COVID-19 based on exhaled breath-print recognition

D. K. Nurputra, K. Triyana, H. Wasisto, 2021, npj Digital Medicine.

Kobe University Repository : Kernel タイトル Tit le SMA Screening System Using Dried Blood Spots on Filter Paper : Applicat ion of COP-PCR to the SMN 1 Delet ion Test 著者

H. Nishio, A. Sadewa, Nozomu Katō, 2018 .

Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis.

Masako Kato, H. Nishio, Mawaddah Ar Rochmah, 2021, Genetic testing and molecular biomarkers.

Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.

H. Nishio, Nihayatus Sa’adah, Mawaddah Ar Rochmah, 2015, Pediatric Neurology.

School reopening: Evidence-based recommendations during COVID-19 pandemic in Indonesia

D. K. Nurputra, M. S. Hakim, Hermawan Hanjaya, 2020, Journal of Community Empowerment for Health.

Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells

H. Nishio, N. Harahap, D. K. Nurputra, 2017, Front. Pediatr..

Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA

H. Nishio, Nihayatus Sa’adah, N. Harahap, 2015, Brain and Development.

Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series

A. Sadewa, Mawaddah Ar Rochmah, N. Harahap, 2022, Journal of Medical Case Reports.

A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

D. K. Nurputra, W. Tse, S. Idaiani, 2022, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

H. Nishio, N. Harahap, D. K. Nurputra, 2020, International journal of neonatal screening.

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients

Y. Tohyama, Y. Takeshima, H. Nishio, 2014, Brain and Development.

Kobe University Repository : Kernel タイトル Tit le Attent ion Deficit / Hyperact ivity Disorder ( ADHD ) : Age Related Change of Complet ion Time and Error Rates of Stroop Test 著者

H. Nishio, A. Sadewa, Nihayatus Sa’adah, 2018 .

Attention Deficit/Hyperactivity Disorder (ADHD): age related change of completion time and error rates of Stroop test.

H. Nishio, A. Sadewa, Nihayatus Sa’adah, 2015, The Kobe journal of medical sciences.

Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

Y. Tohyama, Y. Takeshima, H. Nishio, 2013, Annals of human genetics.

Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines

Gunadi, N. Sasaki, Y. Takeshima, 2012, Brain and Development.

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity

D. K. Nurputra, W. Tse, G. Soraya, 2022, Clinical genetics.

Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis

H. Nishio, D. K. Nurputra, T. Sakaeda, 2013, Journal of Human Genetics.

Potentially predictive factors for hearing function improvement in pediatric cytomegalovirus infection therapy

D. K. Nurputra, E. Herini, A. Triono, 2021, Paediatrica Indonesiana.

Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper.

H. Nishio, N. Harahap, D. K. Nurputra, 2012, Genetic testing and molecular biomarkers.

Influence of the SMN antibody on quartz crystal microbalance with dissipation (QCM-D) surface as an SMN protein biosensor

D. K. Nurputra, K. Triyana, A. Kusumaatmaja, 2023, MRS Communications.

The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine

Gunadi, D. K. Nurputra, P. Lai, 2019, BMC Research Notes.

Association between glaucoma susceptibility with combined defects in mitochondrial oxidative phosphorylation and fatty acid beta oxidation.

D. K. Nurputra, G. Soraya, Z. S. Ulhaq, 2024, Molecular aspects of medicine.

Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report

N. Harahap, D. K. Nurputra, C. T. S. Setyaningrum, 2022, Journal of Medical Case Reports.