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Training in clinical genetics and genetic counseling in Asia.
Cutiongco-de la Paz EM, Chung BH, Faradz SMH, Thong MK, David-Padilla C, Lai PS, Lin SP, Chen YH, Sura T, Laurino M. Cutiongco-de la Paz EM, et al. Among authors: faradz smh. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):177-186. doi: 10.1002/ajmg.c.31703. Epub 2019 Apr 29. Am J Med Genet C Semin Med Genet. 2019. PMID: 31037827 Review.
A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.
Laurino MY, Leppig KA, Abad PJ, Cham B, Chu YWY, Kejriwal S, Lee JMH, Sternen DL, Thompson JK, Burgess MJ, Chien S, Elackatt N, Lim JY, Sura T, Faradz S, Padilla C, Paz ECD, Nauphar D, Nguyen KN, Zayts O, Vu DC, Thong MK. Laurino MY, et al. J Genet Couns. 2018 Feb;27(1):21-32. doi: 10.1007/s10897-017-0115-6. Epub 2017 Jul 11. J Genet Couns. 2018. PMID: 28699126
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. Among authors: faradz smh. 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.
A cytogenetic study in a large population of intellectually disabled Indonesians.
Mundhofir FE, Winarni TI, van Bon BW, Aminah S, Nillesen WM, Merkx G, Smeets D, Hamel BC, Faradz SM, Yntema HG. Mundhofir FE, et al. Genet Test Mol Biomarkers. 2012 May;16(5):412-7. doi: 10.1089/gtmb.2011.0157. Epub 2011 Dec 22. Genet Test Mol Biomarkers. 2012. PMID: 22191675 Free article.
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.
Winarni TI, Mundhofir FE, Ediati A, Belladona M, Nillesen WM, Yntema HG, Hamel BC, Faradz SM, Hagerman RJ. Winarni TI, et al. Clin Genet. 2013 Mar;83(3):263-8. doi: 10.1111/j.1399-0004.2012.01899.x. Epub 2012 Jun 6. Clin Genet. 2013. PMID: 22568721
Methadone use in a male with the FMRI premutation and FXTAS.
Muzar Z, Lozano R, Schneider A, Adams PE, Faradz SM, Tassone F, Hagerman RJ. Muzar Z, et al. Am J Med Genet A. 2015 Jun;167(6):1354-9. doi: 10.1002/ajmg.a.37030. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900641 Free PMC article.
Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.
Ayers K, van den Bergen J, Robevska G, Listyasari N, Raza J, Atta I, Riedl S, Rothacker K, Choong C, Faradz SMH, Sinclair A. Ayers K, et al. Among authors: faradz smh. J Med Genet. 2019 Jul;56(7):434-443. doi: 10.1136/jmedgenet-2018-105893. Epub 2019 Apr 24. J Med Genet. 2019. PMID: 31018998 Free PMC article.
87 results