| Pengaruh penyuluhan terhadap tingkat pengetahuan kesehatan reproduksi pada remaja siswa SMP Kristen Gergaji NR Benita, J Dewantiningrum, N Maharani Fakultas Kedokteran, 2012 | 104 | 2012 |
| Turner syndrome in diverse populations P Kruszka, YA Addissie, C Tekendo‐Ngongang, KL Jones, SK Savage, ... American Journal of Medical Genetics Part A 182 (2), 303-313, 2020 | 28 | 2020 |
| Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism NRB Sihombing, TI Winarni, H van Bokhoven, I van der Burgt, ... American Journal of Medical Genetics Part A 182 (11), 2731-2736, 2020 | 11 | 2020 |
| Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum R Yuniati, NRB Sihombing, D Nauphar, B Tiawarman, DS Kartikasari, ... Intractable & Rare Diseases Research 10 (2), 114-121, 2021 | 5 | 2021 |
| Surveillance and prevalence of fragile X syndrome in Indonesia NRB Sihombing, TI Winarni, A Utari, H van Bokhoven, RJ Hagerman, ... Intractable & Rare Diseases Research 10 (1), 11-16, 2021 | 5 | 2021 |
| Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually … NRB Sihombing, S Cai, DPW Wong, M Guan, SSC Chong, SMH Faradz, ... Singapore medical journal 62 (3), 143, 2021 | 4 | 2021 |
| Duplication of 1q31. 3q41 in two affected siblings due to paternal insertional translocation NRB Sihombing, N de Leeuw, H van Bokhoven, SMH Faradz BMJ Case Reports CP 12 (8), e230941, 2019 | 2 | 2019 |
| Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia NRB Sihombing, TI Winarni, N de Leeuw, B van Bon, H van Bokhoven, ... Intractable & Rare Diseases Research 12 (2), 104-113, 2023 | 1 | 2023 |
| Dilemma of presymptomatic testing in children with history of late onset neurodegenerative spinocerebellar ataxia in Indonesia NRB Sihombing, TI Winarni, M Belladonna, A Ediati, SMH Faradz Journal of Biomedicine and Translational Research 8 (1), 32-37, 2022 | 1 | 2022 |
| A rare case of trisomy 18 with split-hand/split-foot malformation (SHFM) NRB Sihombing, A Purwanti, A Utari Journal of Biomedicine and Translational Research 4 (2), 41-44, 2018 | 1 | 2018 |
| Early identification and treatment of genetic and neurodevelopmental disorders TI Winarni, A Utari, N Maharani, TA Sumekar, NRB Sihombing, ... Journal of Intellectual Disability Research 68 (9), 1007-1009, 2024 | | 2024 |
| A Child Carrying a Large Deletion in the 10p. 15.3-p12. 31 Region N Maharani, A Utari, NRB Sihombing, TI Winarni OBM Genetics 8 (3), 1-11, 2024 | | 2024 |
| Turner syndrome in diverse populations E Badoe, P Kruszka, YA Addissie, C Tekendo-Ngongang, KL Jones, ... American Journal of Medical Genetics, 2019 | | 2019 |
| Autosomal Recessive Limb Girdle Muscular Dystrophy In A Complex Consanguineous Family: The First Cases Series In Indonesia NRB Sihombing, NA Listyasari, SMH Faradz Journal of Biomedicine and Translational Research 3 (2), 26-29, 2017 | | 2017 |
| AB065. Genetic testing and counseling in family with late onset autosomal dominant spinocerebellar ataxia NA Listyasari, NRB Sihombing, TI Winarni, M Belladona, SMH Faradz Annals of Translational Medicine 5 (Suppl 2), 2017 | | 2017 |
| AB060. A family with three children of rare intellectual disability syndrome T Pratamawati, N Sihombing, D Nauphar, SMH Faradz Annals of Translational Medicine 5 (Suppl 2), 2017 | | 2017 |
Prof. Sultana MH Faradz, MD, PhDCenter for Biomedical Research, Faculty of Medicine, Diponegoro University, IndonesiaVerified email at fk.undip.ac.id
