Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients ES Herini, ISK Harahap, S Yusoff, S Morikawa, SY Patria, N Nishimura, ... Epilepsy research 90 (1-2), 132-139, 2010 | 37 | 2010 |
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 | 25 | 2016 |
A Japanese boy with myalgia and cramps has a novel in‐frame deletion of the dystrophin gene C Ishigaki, SY Patria, H Nishio, M Yabe, M Matsuo Neurology 46 (5), 1347-1347, 1996 | 20 | 1996 |
A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation. SY Patria, H Alimsardjono, H Nishio, Y Takeshima, H Nakamura, ... Proceedings of the Association of American Physicians 108 (4), 308-314, 1996 | 18 | 1996 |
Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin N Tachi, K Ohya, S Chiba, M Matsuo, SY Patria, K Matsumura Neurology 49 (2), 579-583, 1997 | 14 | 1997 |
Effect of FTO rs9939609 variant on insulin resistance in obese female adolescents K Iskandar, SY Patria, E Huriyati, HF Luglio, M Julia, R Susilowati BMC Research Notes 11, 1-5, 2018 | 12 | 2018 |
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy ES Herini, Gunadi, MJA Van Kempen, S Yusoff, Sutaryo, Sunartini, ... Pediatrics International 52 (2), 234-239, 2010 | 12 | 2010 |
Early cardiac failure in a child with Becker muscular dystrophy is due to an abnormally low amount of dystrophin transcript lacking exon 13 C Ishigaki, SY PATRIA, H NISHIO, A YOSHIOKA, M MATSUO Pediatrics International 39 (6), 685-689, 1997 | 12 | 1997 |
Ketepatan Waktu Pelayanan Skrining Hipotiroidism Kongenital di Yogyakarta R Anggraini, SY Patria, M Julia Sari Pediatri 18 (6), 436, 2017 | 10 | 2017 |
The outcomes of childhood acute lymphoblastic leukemia with hyperleukocytosis D Alfina, PH Widjajanto, SY Patria Paediatrica Indonesiana 58 (4), 186-91, 2018 | 9 | 2018 |
Predictive factors of ketoacidosis in type 1 diabetes mellitus L Listianingrum, SY Patria, T Wibowo Paediatrica Indonesiana 59 (4), 169-74, 2019 | 8 | 2019 |
A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern … SY Patria, Y Takeshima, R Suminaga, H Nakamura, R Iwasaki, ... Brain and Development 21 (6), 386-389, 1999 | 8 | 1999 |
Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy K Iskandar, A Triono, Sunartini, EK Dwianingsih, BW Indraswari, IR Kirana, ... PLoS One 17 (10), e0276640, 2022 | 6 | 2022 |
Faktor Risiko Hipospadia pada Anak di RSUP Dr. Sardjito Yogyakarta FJ Tangkudung, SY Patria, E Arguni Sari Pediatri 17 (5), 396-400, 2016 | 6 | 2016 |
Hubungan karakteristik ibu bersalin dan petugas kesehatan dengan praktik menyusui dini di RSU PKU Muhammadiyah Yogyakarta D Rokhanawati, SY Patria, R Suparyanti Jurnal Kebidanan dan Keperawatan ‘Aisyiyah Yokyakarta 2, 3-4, 2005 | 6 | 2005 |
Faktor risiko sekuele meningitis bakterial pada anak M Novariani, ES Herini, SY Patria Sari Pediatri 9 (5), 342-7, 2016 | 5 | 2016 |
Neonatal outcomes in in vitro fertilization (IVF) pregnancies M Buchori, SY Patria, T Wibowo, IF Hanoum J Med Sci 50 (2), 163-172, 2018 | 4 | 2018 |
Met 235 Thr polymorphism of angiotensinogen in Indonesians MM Romi, SY Patria, M Matsuo Journal of Human Genetics 42 (4), 557-560, 1997 | 4 | 1997 |
The PPARGC1A is the gene responsible for thrifty metabolism related metabolic diseases: a scoping review R Aisyah, AH Sadewa, SY Patria, A Wahab Genes 13 (10), 1894, 2022 | 3 | 2022 |
Quality of life epilepsy in childhood: Comparison between well-controlled epilepsy and non epilepsy S Machfudz Journal of the Medical Sciences (Berkala Ilmu Kedokteran) 43 (02), 2011 | 3 | 2011 |