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收藏Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management评估以生物素酶缺乏症为模型的生殖携带者筛查：鉴定出的变异、变异率和管理
Benn, Peter; Wang, Yang; Gray, Josie; Dugan, Elizabeth Kramer; Hajjar, Mark; Prigmore, Brittany; Souter, Vivienne; Wolf, Barry 分享 收藏 分享 收藏 Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy CommentSouter, Vivienne; Prigmore, Brittany; Becraft, Emily; Repass, Elizabeth; Smart, Trevor; Sanapareddy, Nina; Schweitzer, Melissa; Ortiz, J. Bryce; Wang, Yang; Benn, Peter 分享 收藏 分享 收藏 分享 收藏 Reproductive Carrier Screening Results With Maternal Health Implications During PregnancySouter, Vivienne; Prigmore, Brittany; Becraft, Emily; Repass, Elizabeth; Smart, Trevor; Sanapareddy, Nina; Schweitzer, Melissa; Ortiz, J. Bryce; Wang, Yang; Benn, Peter 分享 收藏 Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)Grati, Francesca Romana; Bestetti, Ilaria; de Siero, Daria; Malvestiti, Francesca; Villa, Nicoletta; Sala, Elena; Crosti, Francesca; Parisi, Valentina; Nardone, Anna Maria; Di Giacomo, Gianluca; Pettinari, Antonella; Tortora, Giada; Montaldi, Annamaria; Calo, Annapaola; Saccilotto, Donatella; Zanchetti, Sara; Celli, Paola; Guerneri, Silvana; Silipigni, Rosamaria; Cardarelli, Laura; Lippi, Elisabetta; Cavani, Simona; Malacarne, Michela; Genesio, Rita; Beltrami, Nicola; Pittalis, Maria Carla; Desiderio, Laura; Gentile, Mattia; Ficarella, Romina; Recalcati, Maria Paola; Catusi, Ilaria; Garzo, Maria; Miele, Lorena; Corti, Cecilia; Ghezzo, Sara; Bertini, Veronica; Cambi, Francesca; Valetto, Angelo; Facchinetti, Barbara; Bernardini, Laura; Capalbo, Anna; Balducci, Federica; Pelo, Elisabetta; Minuti, Barbara; Pescucci, Chiara; Giuliani, Costanza; Renieri, Alessandra; Longo, Ilaria; Tita, Rossella; Castello, Giuseppe; Casalone, Rosario; Righi, Rossana; Raso, Barbara; Civolani, Alessandro; Muzi, Maria Cristina; di Natale, Manuela; Varriale, Luigia; Gasperini, Daniela; Nuzzi, Maria Cristina; Cellamare, Angelo; Casieri, Paola; Busuito, Rosa; Ceccarini, Caterina; Cesarano, Carla; Privitera, Orsola; Melani, Daniela; Menozzi, Cristina; Falcinelli, Cristina; Calabrese, Olga; Battaglia, Paola; Tanzariello, Antonella; Stampalija, Tamara; Ardisia, Carmela; Gasparini, Paolo; Benn, Peter; Novelli, Antonio 分享 收藏 分享 收藏 分享 收藏 Clinical experience with non-invasive prenatal screening for single-gene disordersMohan, P.; Lemoine, J.; Trotter, C.; Rakova, I; Billings, P.; Peacock, S.; Kao, C-Y; Wang, Y.; Xia, F.; Eng, C. M.; Benn, P. 分享 收藏 Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approachWestemeyer, Maggie; Saucier, Jennifer; Wallace, Jody; Prins, Sarah A.; Shetty, Aparna; Malhotra, Meenakshi; Demko, Zachary P.; Eng, Christine M.; Weckstein, Louis; Boostanfar, Robert; Rabinowitz, Matthew; Benn, Peter; Keen-Kim, Dianne; Billings, Paul 分享 收藏 Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach (vol 56, pg 817, 2020)Westemeyer, Maggie; Saucier, Jennifer; Wallace, Jody; Prins, Sarah A.; Shetty, Aparna; Malhotra, Meenakshi; Demko, Zachary P.; Eng, Christine M.; Weckstein, Louis; Boostanfar, Robert; Rabinowitz, Matthew; Benn, Peter; Keen-Kim, Dianne; Billings, Paul 分享 收藏 分享 收藏 Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNAGrati, Francesca Romana; Ferreira, Jose; Benn, Peter; Izzi, Claudia; Verdi, Federica; Vercellotti, Elena; Dalpiaz, Cristina; D'Ajello, Patrizia; Filippi, Elisa; Volpe, Nicola; Malvestiti, Francesca; Maggi, Federico; Simoni, Giuseppe; Frusca, Tiziana; Cirelli, Gaetana; Bracalente, Gabriella; Lo Re, Antonino; Surico, Daniela; Ghi, Tullio; Prefumo, Federico 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Validation of a Single-Nucleotide Polymorphism-Based Non-Invasive Prenatal Test in Twin Gestations: Determination of Zygosity, Individual Fetal Sex, and Fetal Aneuploidy基于单核苷酸多态性的非侵入性产前检查在双胎妊娠中的验证: 确定合子性，个体胎儿性别和胎儿非整倍性Norwitz, Errol R.; McNeill, Gabriel; Kalyan, Akshita; Rivers, Elizabeth; Ahmed, Ebad; Meng, Ling; Vu, Phikhanh; Egbert, Melissa; Shapira, Marlene; Kobara, Katie; Parmar, Sheetal; Goel, Shruti; Prins, Sarah A.; Aruh, Israel; Persico, Nicola; Robins, Jared C.; Kirshon, Brian; Demko, Zachary P.; Ryan, Allison; Billings, Paul R.; Rabinowitz, Matthew; Benn, Peter; Martin, Kimberly A.; Hedriana, Herman L. 分享 收藏 Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomies 13 and 18 and triploidy in women with low cell-free fetal DNAMckanna, T.; Ryan, A.; Krinshpun, S.; Kareht, S.; Marchand, K.; Grabarits, C.; Ali, M.; Mcelheny, A.; Gardiner, K.; Lechien, K.; Hsu, M.; Saltzman, D.; Stosic, M.; Martin, K.; Benn, P. 分享 收藏 
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