A cytogenetic study in a large population of intellectually disabled Indonesians FEP Mundhofir, TI Winarni, BW Van Bon, S Aminah, WM Nillesen, ... Genetic testing and molecular biomarkers 16 (5), 412-417, 2012 | 23 | 2012 |
Validation of a commercially available screening tool for the rapid identification of CGG trinucleotide repeat expansions in FMR1 GXY Lim, YL Loo, FEP Mundhofir, FK Cayami, SMH Faradz, ... The Journal of Molecular Diagnostics 17 (3), 302-314, 2015 | 18 | 2015 |
Fragile X syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in Indonesia TI Winarni, A Utari, FEP Mundhofir, RJ Hagerman, SMH Faradz Clinical genetics 84 (6), 577-580, 2013 | 18 | 2013 |
Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study FEP Mundhofir, WM Nillesen, BWM Van Bon, D Smeets, R Pfundt, ... Indian Journal of Human Genetics 19 (2), 171, 2013 | 16 | 2013 |
Prevalence of fragile X syndrome in males and females in Indonesia FEP Mundhofir, TI Winarni, W Nillesen, BWM van Bon, M Schepens, ... World Journal of Medical Genetics 2 (3), 15-22, 2012 | 15 | 2012 |
Identification of Expanded Alleles of the FMR1 Gene Among High-Risk Population in Indonesia by Using Blood Spot Screening TI Winarni, A Utari, FEP Mundhofir, T Tong, B Durbin-Johnson, ... Genetic Testing and Molecular Biomarkers 16 (3), 162-166, 2012 | 15 | 2012 |
p. Ser252Trp and p. Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients FE Mundhofir, EA Sistermans, SM Faradz, BC Hamel Singapore Med J 54 (3), e72-e75, 2013 | 12 | 2013 |
Combination of Aspartate Aminotranferase and Tumor Necrosis Factor-alfa as Non Invasive Diagnostic Tools for Non Alcoholic Steatohepatitis (NASH) HD Purnomo, FEF Mundhofir, K Kasno, E Sudijanto, D Darmono, ... Acta Medica Indonesiana 47 (1), 2015 | 10 | 2015 |
A rare, recurrent, de novo 14q32. 2q32. 31 microdeletion of 1.1 Mb in a 20-year-old female patient with a maternal UPD (14)-like phenotype and intellectual disability A Zada, FEP Mundhofir, R Pfundt, N Leijsten, W Nillesen, SMH Faradz, ... Case reports in genetics 2014, 2014 | 9 | 2014 |
Optimization of PCR Condition: The First Study of High Resolution Melting Technique for Screening of APOA1 Variance H Wahyuningsih, FK Cayami, U Bahrudin, MA Sobirin, FEP Mundhofir, ... Yonago Acta Medica 60 (1), 24, 2017 | 8 | 2017 |
Application of topical sucralfate and topical platelet-rich plasma improves wound healing in diabetic ulcer rats wound model R Yuniati, I Innelya, A Rachmawati, HJM Charlex, A Rahmatika, ... Journal of Experimental Pharmacology, 797-806, 2021 | 6 | 2021 |
Pengaruh stres kerja terhadap kejadian nyeri kepala pada pekerja ground handling (studi kasus di Bandara Ahmad Yani Semarang) SS Jatmiputri, M Belladonna, FEP Mundhofir Faculty of Medicine, 2017 | 6 | 2017 |
Monosomy 9pter and trisomy 9q34. 11qter in two sisters due to a maternal pericentric inversion FEP Mundhofir, D Smeets, W Nillesen, TI Winarni, HG Yntema, ... Gene 511 (2), 451-454, 2012 | 6 | 2012 |
Food intake and visceral fat deposition are risk factors of incidence and severity of non-alcoholic fatty liver disease RI Riani, HD Purnomo, SF Muis Journal of Biomedicine and Translational Research 3 (2), 37-45, 2017 | 5* | 2017 |
BRCA1 gene mutation screening for the hereditary breast and/or ovarian cancer syndrome in breast cancer cases: A first high resolution DNA melting analysis in Indonesia FEP Mundhofir, CE Wulandari, YW Prajoko, TI Winarni Asian Pacific Journal of Cancer Prevention 17 (3), 1539-1546, 2016 | 5 | 2016 |
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient FEP Mundhofir, HG Yntema, I van der Burgt, BCJ Hamel, SMH Faradz, ... Case Reports in Genetics 2012, 2012 | 5 | 2012 |
A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report FEP Mundhofir, AJA Kooper, TI Winarni, APT Smits, SMH Faradz, ... Genetic Counseling 21 (1), 99, 2010 | 5 | 2010 |
Efficacy of catfish (Pangasius hypophthalmus) oil to overcome stunting by reducing inflammatory condition S Reski, FE Mundhofir, EA Murbawani, Y Nindita, M Muniroh, ... International Journal of Pharmacy and Pharmaceutical Sciences 13 (5), 18-22, 2021 | 4 | 2021 |
TNF-α Gene Polymorphism is Likely to be a Risk Factor for NASH in Indonesia HD Purnomo, E Mundhofir, K Farmaditya, E Sudijanto, D Darmono, ... Hiroshima Journal of Medical Sciences 67, 101-109, 2018 | 3 | 2018 |
Ring Chromosome Y in a boy with genital anomaly, a case report Publish in PAAI FEP Mundhofir, TI Winarni, AZ Juniarto, SMH Faradz Semarang, 2006 | 3 | 2006 |