|Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease …|
Y Harada, R Sutomo, AH Sadewa, T Akutsu, Y Takeshima, H Wada, ...
Journal of neurology 249 (9), 1211-1219, 2002
|The C677T mutation in the methylenetetrahydrofolate reductase gene among the Indonesian Javanese population|
AH Sadewa, R Sutomo, C Hayashi, MJ Lee, H Ayaki, ASM Sofro, ...
Kobe Journal of Medical Sciences 48 (5/6), 137-144, 2002
|Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome|
R Sutomo, V Laosombat, AH Sadewa, N Yokoyama, H Nakamura, ...
Pediatrics international 44 (4), 427-432, 2002
|Somatic and Germline Mosaicism for a Mutation of the PHEX Gene Can Lead to Genetic Transmission of X-Linked Hypophosphatemic Rickets That Mimics an …|
K Goji, K Ozaki, AH Sadewa, H Nishio, M Matsuo
The Journal of Clinical Endocrinology & Metabolism 91 (2), 365-370, 2006
|Screening for G71R mutation of the UGT1A1 gene in the Javanese‐Indonesian and Malay‐Malaysian populations|
R Sutomo, NA Talib, NM Yusoff, H Van Rostenberghe, AH Sadewa, ...
Pediatrics international 46 (5), 565-569, 2004
|A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins|
T Kotani, R Sutomo, TH Sasongko, AH Sadewa, T Minato, E Fujii, S Endo, ...
Journal of neurology 254 (5), 624, 2007
|Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy|
R Sutomo, T Akutsu, Y Takeshima, H Nishio, AH Sadewa
American journal of medical genetics 113 (2), 225-226, 2002
|Modifying effect of XmnI, BCL11A, and HBS1L-MYB on clinical appearances: a study on β-thalassemia and hemoglobin E/β-thalassemia patients in Indonesia|
L Rujito, M Basalamah, W Siswandari, J Setyono, G Wulandari, ...
Hematology/oncology and stem cell therapy 9 (2), 55-63, 2016
|C677T mutation in the MTHFR gene was not found in patients with frontoethmoidal encephalocele in East Java, Indonesia|
AH Sadewa, R Sutomo, M Istiadjid, K Nishiyama, T Shirakawa, M Matsuo, ...
Pediatrics international 46 (4), 409-414, 2004
|Germ‐line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion|
AH Sadewa, TH Sasongko, Gunadi, MJ Lee, K Daikoku, A Yamamoto, ...
Pediatrics International 50 (2), 167-171, 2008
|ACE gene polymorphism in children with nephrotic syndrome in the Indonesian population|
TH Sasongko, AH Sadewa, PA Kusuma, MP Damanik, MJ Lee, H Ayaki, ...
KOBE JOURNAL OF MEDICAL SCIENCES 51 (3/4), 41, 2005
|Dyslipidemia, insulin resistance and dietary fat intake in obese and normal weight adolescents: the role of uncoupling protein 2-866G/A gene polymorphism|
E Huriyati, HF Luglio, PD Ratrikaningtyas, AFA Tsani, AH Sadewa, ...
International journal of molecular epidemiology and genetics 7 (1), 67, 2016
|Polymorphism in leptin receptor gene was associated with obesity in Yogyakarta, Indonesia|
P Hastuti, I Zukhrufia, MH Padwaswari, A Nuraini, AH Sadewa
Egyptian journal of medical human genetics 17 (3), 271–276-271–276, 2016
|Relationship of angiotensin converting enzyme gene polymorphism and hypertension in Yogyakarta, Indonesia|
LA Bawazier, M Sja’bani, SM Haryana, MH Soesatyo, AH Sadewa
Acta Med Indones 42 (4), 192-198, 2010
|Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome|
TH Sasongko, AH Sadewa, LMJ Gunadi, K Koterazawa, H Nishio
Kobe J Med Sci 53 (4), 157-162, 2007
|RET and EDNRB mutation screening in patients with Hirschsprung disease: functional studies and its implications for genetic counseling|
T Widowati, S Melhem, SY Patria, BM De Graaf, RJ Sinke, M Viel, ...
European Journal of Human Genetics 24 (6), 823-829, 2016
|SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test|
N Kato, N Sa’Adah, M Ar Rochmah, NI Harahap, DK Nurputra, H Sato, ...
Kobe J. Med. Sci 60 (4), E78-E85, 2015
|The role of vascular endothelial growth factor− 634 G/C and its soluble receptor on chronic liver disease and hepatocellular carcinoma|
N Ratnasari, S Nurdjanah, AH Sadewa, M Hakimi
Arab Journal of Gastroenterology 17 (2), 61-66, 2016
|Deletion of the SMNI and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy|
ND Bach, AH Sadewa, Y Takeshima, R Sutomo, T Van Khanh, NTN Dao, ...
Kobe Journal of Medical Sciences 49 (3/4), 55-58, 2004
|Effects of MTHFR c.677C>T, F2 c.20210G>A and F5 Leiden Polymorphisms in Gastroschisis|
A Makhmudi, AH Sadewa, T Aryandono, S Chatterjee, HA Heij, Gunadi
Journal of Investigative Surgery 29 (2), 88-92, 2016