Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Muscular Atrophy and CFTR[original query] |
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Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Human genetics 2019 Feb . Ruhno Corey, McGovern Vicki L, Avenarius Matthew R, Snyder Pamela J, Prior Thomas W, Nery Flavia C, Muhtaseb Abdurrahman, Roggenbuck Jennifer S, Kissel John T, Sansone Valeria A, Siranosian Jennifer J, Johnstone Alec J, Nwe Pann H, Zhang Ren Z, Swoboda Kathryn J, Burghes Arthur H |
Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center. JBRA assisted reproduction 2022 8 . Soares Célia Azevedo, Tkachenko Natália, Vale-Fernandes Emídio, Barreiro Márcia, Abreu Maria, Reis Cláudia Falcão, Soares Gabriela, Fortuna Ana Maria, Soares Ana Ri |
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