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Medical genetics and genetic counseling in Chile.
Margarit SB, Alvarado M, Alvarez K, Lay-Son G. Margarit SB, et al. J Genet Couns. 2013 Dec;22(6):869-74. doi: 10.1007/s10897-013-9607-1. Epub 2013 Jun 7. J Genet Couns. 2013. PMID: 23744184
The Global State of the Genetic Counseling Profession.
Abacan M, Alsubaie L, Barlow-Stewart K, Caanen B, Cordier C, Courtney E, Davoine E, Edwards J, Elackatt NJ, Gardiner K, Guan Y, Huang LH, Malmgren CI, Kejriwal S, Kim HJ, Lambert D, Lantigua-Cruz PA, Lee JMH, Lodahl M, Lunde Å, Macaulay S, Macciocca I, Margarit S, Middleton A, Moldovan R, Ngeow J, Obregon-Tito AJ, Ormond KE, Paneque M, Powell K, Sanghavi K, Scotcher D, Scott J, Juhé CS, Shkedi-Rafid S, Wessels TM, Yoon SY, Wicklund C. Abacan M, et al. Eur J Hum Genet. 2019 Feb;27(2):183-197. doi: 10.1038/s41431-018-0252-x. Epub 2018 Oct 5. Eur J Hum Genet. 2019. PMID: 30291341 Free PMC article. Review.
Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population.
Jara L, Gonzalez-Hormazabal P, Cerceño K, Di Capua GA, Reyes JM, Blanco R, Bravo T, Peralta O, Gomez F, Waugh E, Margarit S, Ibañez G, Romero C, Pakomio J, Roizen G. Jara L, et al. Breast Cancer Res Treat. 2013 Jan;137(2):559-69. doi: 10.1007/s10549-012-2359-z. Epub 2012 Dec 7. Breast Cancer Res Treat. 2013. PMID: 23225170
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results.
Dorfman R, Li W, Sun L, Lin F, Wang Y, Sandford A, Paré PD, McKay K, Kayserova H, Piskackova T, Macek M, Czerska K, Sands D, Tiddens H, Margarit S, Repetto G, Sontag MK, Accurso FJ, Blackman S, Cutting GR, Tsui LC, Corey M, Durie P, Zielenski J, Strug LJ. Dorfman R, et al. Hum Genet. 2009 Dec;126(6):763-78. doi: 10.1007/s00439-009-0724-8. Hum Genet. 2009. PMID: 19662435 Free PMC article.
11 results