Retno Sutomo

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity

Yosuke Harada, Retno Sutomo, Ahmad Hamim Sadewa et al. · Journal of Neurology · 2002 · 134 citations

Rare Diseases, Genetic Disorder, Disease Severity +9

The C677T mutation in the methylenetetrahydrofolate reductase gene among the Indonesian Javanese population.

Ahmad Hamim Sadewa, Sunarti Sunarti, Retno Sutomo et al. · PubMed · 2002 · 54 citations · Full text

Genetics, Genetic Epidemiology, Human Polymorphism +23

A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins

Tomohiro Kotani, Retno Sutomo, Teguh Haryo Sasongko et al. · Journal of Neurology · 2007 · 39 citations

Smn Tudor Domain, Novel Mutation, Protein Function +9

Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome

Retno Sutomo, Vichai Laosombat, Ahmad Hamim Sadewa et al. · Pediatrics International · 2002 · 35 citations · Full text

C677T mutation in the <i>MTHFR</i> gene was not found in patients with frontoethmoidal encephalocele in East Java, Indonesia

Ahmad Hamim Sadewa, Retno Sutomo, Mohamad Istiadjid et al. · Pediatrics International · 2004 · 32 citations