Ahmad Hamim Sadewa

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

Modifying effect of XmnI, BCL11A, and HBS1L-MYB on clinical appearances

Lantip Rujito, Muhammad Ridwan Basalamah, Wahyu Siswandari et al. · Hematology/Oncology and Stem Cell Therapy · 2016 · 49 citations · Full text

Somatic and Germline Mosaicism for a Mutation of the PHEX Gene Can Lead to Genetic Transmission of X-Linked Hypophosphatemic Rickets That Mimics an Autosomal Dominant Trait

Katsumi Goji, Kayo Ozaki, Ahmad Hamim Sadewa et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 48 citations · Full text

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