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Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals.
Singapore Med J. 2021 Mar;62(3):143-148. doi: 10.11622/smedj.2020009. Epub 2020 Jan 28.
Singapore Med J. 2021.
PMID: 31989181
Free PMC article.
Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.
Sihombing NRB, Winarni TI, van Bokhoven H, van der Burgt I, de Leeuw N, Faradz SMH.
Sihombing NRB, et al.
Am J Med Genet A. 2020 Nov;182(11):2731-2736. doi: 10.1002/ajmg.a.61835. Epub 2020 Sep 18.
Am J Med Genet A. 2020.
PMID: 32945093
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Surveillance and prevalence of fragile X syndrome in Indonesia.
Sihombing NRB, Winarni TI, Utari A, van Bokhoven H, Hagerman RJ, Faradz SM.
Sihombing NRB, et al.
Intractable Rare Dis Res. 2021 Feb;10(1):11-16. doi: 10.5582/irdr.2020.03101.
Intractable Rare Dis Res. 2021.
PMID: 33614370
Free PMC article.
Review.
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Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia.
Sihombing NRB, Winarni TI, de Leeuw N, van Bon B, van Bokhoven H, Faradz SM.
Sihombing NRB, et al.
Intractable Rare Dis Res. 2023 May;12(2):104-113. doi: 10.5582/irdr.2023.01001.
Intractable Rare Dis Res. 2023.
PMID: 37287653
Free PMC article.
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Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation.
Sihombing NRB, de Leeuw N, van Bokhoven H, Faradz SM.
Sihombing NRB, et al.
BMJ Case Rep. 2019 Aug 30;12(8):e230941. doi: 10.1136/bcr-2019-230941.
BMJ Case Rep. 2019.
PMID: 31473642
Free PMC article.
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Turner syndrome in diverse populations.
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M.
Kruszka P, et al.
Am J Med Genet A. 2020 Feb;182(2):303-313. doi: 10.1002/ajmg.a.61461. Epub 2019 Dec 19.
Am J Med Genet A. 2020.
PMID: 31854143
Free PMC article.
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Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum.
Yuniati R, Sihombing NRB, Nauphar D, Tiawarman B, Kartikasari DS, Dewi M, Faradz SM.
Yuniati R, et al. Among authors: sihombing nrb.
Intractable Rare Dis Res. 2021 May;10(2):114-121. doi: 10.5582/irdr.2020.03143.
Intractable Rare Dis Res. 2021.
PMID: 33996357
Free PMC article.
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